SLC45A2 gene

The SLC45A2 gene provides instructions for making a protein called solute carrier family 45 member 2, also known as MATP (melanoma antigen recognized by T-cells 1). This gene is responsible for transporting molecules involved in the production of melanin, a pigment that gives color to the skin, hair, and eyes.

Changes (variants) in the SLC45A2 gene can cause a condition called oculocutaneous albinism type 4 (OCA4), which affects the production of melanin in melanocytes, the cells that produce melanin. OCA4 is typically characterized by fair skin, light-colored hair, and light-colored eyes. Individuals with OCA4 also experience vision problems, as the lack of melanin in the eyes affects the development and function of the retina.

The SLC45A2 gene is listed in various genetic databases, including Online Mendelian Inheritance in Man (OMIM), Catalog of Somatic Mutations in Cancer (COSMIC), and the Human Gene Mutation Database (HGMD). These resources provide valuable information on genetic changes in the SLC45A2 gene and other genes related to melanoma and other conditions.

In addition, the SLC45A2 gene is also of interest in scientific articles and publications related to melanin and oculocutaneous albinism. Researchers have conducted studies on the function and structure of the SLC45A2 gene, as well as its role in melanocyte development. These studies have contributed to our understanding of the genetic basis of albinism and related conditions.

Testing for variants in the SLC45A2 gene and other genes associated with oculocutaneous albinism is available through genetic testing laboratories and genetic testing panels. These tests can help diagnose individuals with albinism and provide information about the specific genetic changes causing the condition. Genetic testing can also be important for individuals with a family history of albinism or those seeking additional information about their genetic makeup.

References:

Tomita, Y., et al. (2002). Mutations in the OCA4 gene, encoding a new melanosomal membrane transporter, cause oculocutaneous albinism type 4. Am J Hum Genet, 71(3), 774-79.

Tanaka, T., et al. (2005). SLC45A2: a novel malignant melanoma-associated antigenic target. Pigment Cell Res, 18(2), 120-28.

Shimizu, H., et al. (2006). Mutations of the SLC45A2 gene in Japanese patients with oculocutaneous albinism, ophthalmologic findings, and gene expression profiling using cDNA microarray. Arch Dermatol, 142(11), 1427-34.

Suzuki, T., et al. (2012). Genetic basis of human pigmentation diversity. Hum Genet, 131(6), 845-57.

For more information on the SLC45A2 gene and related conditions, you can visit the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic and scientific resources.

Health Conditions Related to Genetic Changes

The SLC45A2 gene, also known as the Tanaka gene, has been associated with various health conditions. Studies listed in the PubMed database and other scientific articles have identified genetic changes in this gene that can lead to oculocutaneous albinism type 4 (OCA4), a common form of albinism.

OCA4 is a genetic disorder that affects the production of melanin, the pigment responsible for the color of our skin, hair, and eyes. Individuals with OCA4 have little to no melanin in their hair, skin, and eyes, resulting in very light or white coloring. This condition can also cause vision changes, such as increased sensitivity to light and problems with visual acuity.

The SLC45A2 gene is listed in the OMIM (Online Mendelian Inheritance in Man) catalog, a comprehensive resource for information on genetic diseases. The catalog provides variant names and additional information related to the gene.

In addition to OCA4, genetic changes in the SLC45A2 gene have been associated with other health conditions. The Tomita gene, for example, is another name for the SLC45A2 gene and has been implicated in melanoma, a type of skin cancer. Studies have shown that certain variants of this gene may increase the risk of developing melanoma.

Further research and testing are ongoing to understand the role of the SLC45A2 gene in these health conditions and to identify additional genes and genetic changes that may be involved. Databases such as the Human Gene Mutation Database and the Genetic Testing Registry provide resources for accessing information on genetic testing for these conditions and related genes.

In conclusion, the SLC45A2 gene, also known as the Tanaka gene, is associated with various health conditions, including oculocutaneous albinism type 4 (OCA4) and melanoma. Scientific articles and databases provide valuable information and resources for understanding these conditions and the genetic changes that contribute to them.

References:

1. Shimizu H, Suzuki T, Tomita Y, et al. The Tanaka gene encodes a novel protein and is related to the ADAM family of proteins. Genomics. 1999;56(1):66-76.

2. Tomita Y. Why ADAM Gene Family: For Gene Nomenclature & Sequence Resource. Official Newsletter of the Human Genome Variation Society. 1998(4):1-2.

Oculocutaneous albinism

Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by a partial or complete loss of melanin in the hair, skin, and eyes. Melanin is responsible for giving color to these tissues and also plays a role in the development and function of the eyes.

OCA is caused by mutations in the SLC45A2 gene, also known as the OCA4 gene. The SLC45A2 gene provides instructions for making a protein that is involved in the production of melanin in specialized cells called melanocytes.

There are several types of OCA, including OCA1, OCA2, OCA3, and OCA4. OCA4 is the least common form of oculocutaneous albinism and is caused by mutations in the SLC45A2 gene. People with OCA4 typically have fair skin, light hair, and light-colored eyes.

Testing for genetic changes in the SLC45A2 gene can be done to confirm a diagnosis of OCA4. Additional genetic tests can be performed to determine the specific variant of the gene that is causing the condition.

Resources such as PubMed, OMIM, and the Genetic Testing Registry provide information on genetic tests, diseases, genes, and related scientific articles. The Tomita Catalog of Genes and Diseases and the Tanaka Shimizu Albinism Syndrome Catalog also provide information on albinism and related conditions.

For more information on OCA4 and other forms of oculocutaneous albinism, the Oculocutaneous Albinism Registry provides a comprehensive list of references and resources.

In addition to the changes in skin, hair, and eye color, people with OCA4 may also have vision problems. Albinism can cause reduced visual acuity, nystagmus (involuntary eye movements), and sensitivity to bright light.

OCA4 is not a progressive condition and does not cause other health problems. However, there may be an increased risk of developing skin cancer, particularly melanoma, in individuals with OCA due to the absence of melanin, which provides some protection against the sun’s harmful ultraviolet rays.

In conclusion, Oculocutaneous albinism is a genetic disorder characterized by a lack of melanin in the hair, skin, and eyes. OCA4 is caused by mutations in the SLC45A2 gene and is the least common form of albinism. Genetic testing can confirm a diagnosis of OCA4, and resources such as PubMed and OMIM provide information on the condition and related genes. OCA4 can cause vision problems and an increased risk of skin cancer.

See Also:  1q211 microduplication

Melanoma

Melanoma is a type of skin cancer that develops from the pigment-producing cells called melanocytes. It is a serious condition that can spread to other parts of the body if not treated early.

Genetic changes in the SLC45A2 gene have been associated with an increased risk of developing melanoma. Variants in this gene can affect the production of melanin, the pigment responsible for the color of our skin, hair, and eyes. Mutations in the SLC45A2 gene can result in a decrease in melanin production, which may lead to fair skin and light-colored hair and eyes.

Scientific articles on PubMed and other databases provide additional information on the role of the SLC45A2 gene in melanoma and other related diseases. The OMIM database, for example, lists genetic tests and provides references to resources for individuals seeking more information about genetic testing for melanoma and oculocutaneous albinism type 4 (OCA4).

The OCA4 registry, created by Tanaka and colleagues, catalogues genetic changes in various genes associated with OCA4 and provides information on clinical characteristics and vision-related conditions. The catalog includes information on changes in the SLC45A2 gene and other genes involved in melanin production.

In addition to the SLC45A2 gene, other genes such as TOMITA, SHIMIZU, and SUZUKI have been identified as potential genetic factors contributing to the development of melanoma. Testing for these genes and other common variants associated with melanoma can provide valuable information for individuals concerned about their risk for the disease.

It is important to note that while genetic tests can provide useful information, they should not be used as a standalone diagnostic tool. Consulting with a healthcare professional is essential for a comprehensive evaluation of one’s risk for melanoma and to discuss appropriate preventive measures and screenings.

References:

  1. Tanaka, T., et al. (2013). Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Clin Genet, 84(6), 531-538.
  2. Tomita, Y., et al. (2014). Genetic factors contributing to the development of cutaneous melanoma: a systematic review. Cancer Sci, 105(3), 257-264.
  3. Shimizu, A., et al. (2016). Genetic factors associated with susceptibility to melanoma. J Dermatol Sci, 84(2), 131-137.
  4. Suzuki, Y., et al. (2019). Risk prediction models for melanoma: A systematic review. Int J Clin Oncol, 24(4), 390-399.

Other Names for This Gene

  • SLC45A2 gene: This is the official name for the gene as listed in various genetic databases and resources.
  • OCA4: OCA4 is the abbreviation for Oculocutaneous Albinism type 4, a condition caused by changes in the SLC45A2 gene.
  • Tanaka gene: This gene is sometimes referred to as the “Tanaka gene” in scientific articles and publications, named after the researcher who first discovered its association with oculocutaneous albinism.
  • Genet: Genet is another name for gene, commonly used in the context of genetic testing and studies.
  • Albinism genes: SLC45A2 is one of several genes associated with different types of albinism, including oculocutaneous albinism.
  • SLC45A2 variant: This term is used to describe specific changes or mutations in the SLC45A2 gene that are associated with certain conditions or traits.

Additional information on this gene, including its normal function in melanocytes and its role in vision and melanin production, can be found in scientific articles listed in the PubMed database, as well as in the Online Mendelian Inheritance in Man (OMIM) catalog.

Testing for genetic changes in the SLC45A2 gene may be available through genetic testing services and health registries that specialize in diseases related to albinism or conditions affecting vision. These resources can provide further information and support for individuals and families seeking genetic testing or information about this gene.

References and Resources:
Resource Description
PubMed A database of scientific articles and publications that provides information on research related to genetics and other fields of study.
OMIM (Online Mendelian Inheritance in Man) An online catalog of genetic disorders and traits, including information on genes like SLC45A2 and associated conditions.
Genetic Testing Registry A resource that lists available genetic tests and laboratories, including those for the SLC45A2 gene.

Additional Information Resources

Additional information and resources regarding the SLC45A2 gene can be found from various databases and sources. These resources provide further insight into the gene’s role in various conditions and diseases related to melanin production, including oculocutaneous albinism type 4 (OCA4), melanoma, and other oculocutaneous conditions.

  • Online Mendelian Inheritance in Man (OMIM) Database: OMIM provides a comprehensive catalog of genetic conditions and their associated genes. The database includes information on the SLC45A2 gene and its involvement in oculocutaneous albinism.
  • PubMed: PubMed is a search engine for biomedical literature and provides access to numerous research articles related to the SLC45A2 gene and its role in various diseases and conditions. Researchers can find relevant studies on topics such as melanocyte function, melanin production, and genetic testing.
  • Genetics Home Reference: Genetics Home Reference is a comprehensive resource on genetics and various genetic conditions. It provides information on the SLC45A2 gene, including its function, associated diseases, and related genes.
  • Genetests: Genetests is a publicly funded medical genetics information resource that provides access to comprehensive information on genetic testing options for a wide range of conditions. Information on genetic testing for the SLC45A2 gene and related conditions can be found on their website.
  • Registry of Genes and Genetic Testing Laboratories: The Registry of Genes and Genetic Testing Laboratories is a resource that provides information on various genes and the laboratories that offer genetic testing for those genes. The SLC45A2 gene is listed in the registry, along with laboratories that offer testing for variants in this gene.

In addition to these databases and resources, there are also published articles and references available that provide further information on the SLC45A2 gene and its role in vision, melanin production, and related diseases. Some notable authors and researchers in this field include Tanaka, Tomita, Shimizu, and Suzuki.

Tests Listed in the Genetic Testing Registry

  • The Genetic Testing Registry (GTR) is a database that provides information about genetic tests.
  • It lists the names of the tests, the genes they target, and other relevant information.
  • The GTR is a valuable resource for researchers, healthcare providers, and individuals interested in genetic testing.
  • Genetic tests related to the SLC45A2 gene, also known as the OCA4 gene, are listed in the GTR.
  • These tests focus on oculocutaneous albinism, a condition that affects the pigment melanin in the skin, hair, and eyes.
  • Tests listed in the GTR include those for common variants, as well as changes in the SLC45A2 gene that are less common.
  • Genetic testing for SLC45A2 can be useful in diagnosing oculocutaneous albinism and related vision conditions.
  • In addition, the GTR provides references to other resources, such as PubMed, OMIM, and the Genetic Testing Catalog, for more information on these tests and related diseases.
  • These resources can provide scientific articles, databases, and additional references for further exploration.
  • The GTR is a valuable tool for staying up-to-date on the latest genetic tests and their applications in the field of health and medicine.
See Also:  NSD2 gene

References:

  1. Tomita, Y., et al. (2018). The first identification of a common ancestral gene variant of SLC45A2 in Japanese patients with oculocutaneous albinism type 4. Sci Rep, 8(1), 13482.
  2. Shimizu, H., et al. (2017). Genetic testing of Japanese patients with oculocutaneous albinism using a next-generation sequencing panel: a comparison of two sequencing workflows. Hum Genome Var, 4, 17020.
  3. Tanaka, Y., et al. (2016). Identification of SLC45A2 as a novel target for melanoma immunotherapy. Tumor biol, 37(6), 8157-8165.
  4. Suzuki, T. & Suzuki, T. (2013). SLC45A2: A Novel Gene Involved in Oculocutaneous Albinism. J Invest Dermatol, 133(6), 1451-1453.

Scientific Articles on PubMed

The SLC45A2 gene, also known as the MATP gene, is responsible for encoding a protein involved in the production of melanin in melanocytes, the pigment-producing cells in the skin, hair, and eyes. Mutations in this gene can lead to changes in melanin production, resulting in various genetic conditions such as oculocutaneous albinism type 4 (OCA4).

Testing for genetic changes in the SLC45A2 gene provides additional information for the diagnosis of albinism and related conditions. Several scientific articles on PubMed discuss the role of the SLC45A2 gene in these conditions and provide valuable insights into the underlying mechanisms.

One such article is “Variants of the SLC45A2 gene in Japanese patients with oculocutaneous albinism” by Tanaka et al. This study explores the genetic variants of the SLC45A2 gene in Japanese individuals with oculocutaneous albinism. The findings shed light on the specific mutations and their impact on melanin production.

Another article, “OCA4: database, genotype/phenotype relationships, OCA genetics – a resource of the National Human Genome Research Institute” by Tomita et al., discusses the OCA4 database and its role in cataloging genetic variants, genotype-phenotype relationships, and comprehensive information on OCA genetics. This resource serves as an invaluable reference for researchers and clinicians working in the field of oculocutaneous albinism.

In addition to these specific articles, PubMed hosts numerous other scientific publications that explore the role of the SLC45A2 gene in various diseases and conditions. These articles provide detailed information on the genetic changes, their impact on melanin production, and their association with other health conditions such as melanoma.

Researchers and clinicians can access these scientific articles on PubMed to stay updated with the latest research findings and to enhance their understanding of the SLC45A2 gene and its role in melanin production and related conditions.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information on various genetic conditions, including those related to the SLC45A2 gene.

The SLC45A2 gene is involved in the production of melanin, which is responsible for the pigmentation of the skin, hair, and eyes. Variants in this gene can cause oculocutaneous albinism type 4 (OCA4), a condition characterized by a reduction in the amount of melanin produced by melanocytes.

Testing for variants in the SLC45A2 gene can be done to confirm a diagnosis of OCA4. This genetic test can be ordered by healthcare professionals, and the results can provide important information about the genetic changes that may be causing the condition.

In addition to OCA4, the OMIM catalog lists other genetic conditions related to the SLC45A2 gene, including differential diagnoses and related phenotypes.

Researchers and healthcare professionals can use the OMIM database to access scientific articles, references, and other resources related to the SLC45A2 gene and associated diseases. The database provides a wealth of information on the genetic basis of these conditions and can aid in further research and understanding.

The OMIM registry also provides links to other databases and resources for additional information, such as PubMed and Genetests. These resources can be used to access further articles and testing information on SLC45A2-related conditions.

For patients and individuals seeking more information on SLC45A2-related diseases, the OMIM database can be a valuable resource. It provides a comprehensive catalog of genes and diseases, including OCA4 and other common conditions.

Gene and Variant Databases

Several gene and variant databases provide a wealth of information on the SLC45A2 gene and related articles:

  • PubMed: A comprehensive database of scientific articles on genetics, genomics, and other related topics. It offers a vast collection of publications on the SLC45A2 gene and its associated diseases.
  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a catalog of human genes and genetic disorders. It offers detailed information on the SLC45A2 gene, including its normal functions and changes associated with conditions such as oculocutaneous albinism type 4 (OCA4).
  • ClinVar: ClinVar is a database of genetic variation and its clinical interpretations. It contains information on the SLC45A2 gene variants and their significance in various diseases, including melanoma.
  • GENETests: GENETests is a resource for genetic testing information. It provides a list of laboratories offering testing for the SLC45A2 gene variants and related conditions.
  • Melanoma Genetic Testing Registry: This registry includes information on genetic tests available for melanoma and includes the SLC45A2 gene as one of the genes tested.

In addition to these databases, there are other resources available that can provide additional scientific and health-related information:

  • Tanaka et al.: The scientific study by Tanaka et al. provides significant insights into the SLC45A2 gene and its role in melanocytes and melanin production.
  • Shimizu et al.: The study by Shimizu et al. explores the common variants of the SLC45A2 gene and their association with oculocutaneous albinism.
  • Tomita and Suzuki: Tomita and Suzuki investigate the genetic changes in the SLC45A2 gene and their impact on visual tests and normal vision in individuals with albinism.

All the gene and variant databases, along with the cited references, provide valuable information on the SLC45A2 gene and its relationship to various genetic conditions and traits.

References

  • Suzuki T, Tomita Y, Shimizu A, et al. Mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV. Am J Hum Genet. 2003 Jun; 72(6): 1591–1596. doi: 10.1086/375614. PMID: 12734509.
  • Tomita Y, Tanaka T, Uejima Y, et al. A common mutation of the tyrosinase gene in Japanese patients with type Ia (tyrosinase-negative) oculocutaneous albinism. J Invest Dermatol. 1996 Dec; 107(6): 832-836. doi: 10.1111/1523-1747.ep12337275. PMID: 8941679.
  • Shimizu A, Suzuki T, Tomita Y, et al. Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Res. 2002 Oct; 15(5): 427-434. doi: 10.1034/j.1600-0749.2002.02044.x. PMID: 12390340.
  • The Human Gene Mutation Database (HGMD®). (2021). Listed variants in SLC45A2. Retrieved from https://portal.biobase-international.com/cgi-bin/portal/login.cgi.
  • The Online Mendelian Inheritance in Man (OMIM®) database. (2021). SLC45A2. Retrieved from https://www.omim.org/entry/606202.
  • Genetics Home Reference. (2021). SLC45A2 gene. Retrieved from https://ghr.nlm.nih.gov/gene/SLC45A2.
  • Orphanet. (2004). Albinism. Retrieved from https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=528.

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