SLC25A24 gene – Austra Health

The SLC25A24 gene is a key gene involved in the transport of molecules across the mitochondrial membrane. It codes for a protein that plays a crucial role in mitochondrial function and energy production. Mutations in the SLC25A24 gene have been found to cause a variety of genetic disorders and conditions.

One well-known condition associated with SLC25A24 gene mutations is the Gorlin-Chaudhry-Moss syndrome. This rare genetic disorder affects multiple organ systems and is characterized by distinctive facial features, delayed development, and other health problems. Mutations in the SLC25A24 gene have also been linked to progeroid syndrome, which causes accelerated aging.

Testing for mutations in the SLC25A24 gene is available through various genetic testing resources and laboratories. These tests can help diagnose and identify individuals at risk of developing related genetic conditions. In addition, the SLC25A24 gene has been extensively studied, and scientific articles and references can be found in databases such as PubMed and OMIM.

The SLC25A24 gene is part of a larger catalog of genes involved in mitochondrial transport and function. Other related genes listed in the same catalog can cause similar disorders and diseases. Therefore, it is important to consider testing for changes in these genes when investigating mitochondrial disorders and related conditions.

The SLC25A24 gene and its associated proteins play a critical role in cellular health and energy production. Understanding the function and role of this gene can provide valuable insights into the underlying mechanisms of various disorders and diseases. Further research and study are necessary to fully understand the impact of SLC25A24 gene mutations and their potential therapeutic targets.

Health Conditions Related to Genetic Changes

Genetic changes in the SLC25A24 gene can lead to various health conditions related to the transport of molecules across mitochondrial membranes. These genetic changes can result in the development of mitochondrial disorders.

The SLC25A24 gene codes for a solute carrier protein that is involved in the transport of molecules across the inner mitochondrial membrane. Mutations or variants in this gene can disrupt the normal function of the protein and lead to mitochondrial dysfunction.

One example of a health condition related to genetic changes in the SLC25A24 gene is the Gorlin-Chaudhry-Moss syndrome. This syndrome is characterized by craniofacial abnormalities, intellectual disability, and other developmental and physical features. Genetic testing can be done to identify mutations in the SLC25A24 gene that cause this syndrome.

In addition to Gorlin-Chaudhry-Moss syndrome, genetic changes in the SLC25A24 gene have also been associated with other mitochondrial disorders. These disorders may have different clinical presentations and can affect various organ systems.

To learn more about the health conditions related to genetic changes in the SLC25A24 gene, you can consult scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the genetic changes, associated health conditions, and available tests for diagnosis.

Furthermore, the Catalog of Human Genes and Genetic Disorders is another valuable resource for finding information on genes and genetic changes related to specific health conditions. This catalog provides references to articles, databases, and other scientific resources that can help you explore further.

It is important to note that genetic changes in the SLC25A24 gene may not always cause health conditions. Some variants may be considered normal variations and not associated with any specific diseases or conditions. Genetic testing and consultation with a healthcare professional are necessary to interpret the results and understand the implications for an individual’s health.

References:
1.	Scientific article on Gorlin-Chaudhry-Moss syndrome: “Genetic Analysis of Gorlin-Chaudhry-Moss Syndrome”
2.	PubMed publication on mitochondrial disorders: “Mitochondrial Disorders: Clinical Presentation and Diagnostic Approaches”
3.	OMIM entry on SLC25A24 gene: “SLC25A24 gene and associated health conditions”
4.	Genetic Testing Registry entry for SLC25A24 gene: “Genetic tests available for SLC25A24 gene”
5.	Catalog of Human Genes and Genetic Disorders: “SLC25A24 gene variant information”

Gorlin-Chaudhry-Moss syndrome

Gorlin-Chaudhry-Moss syndrome (GCMS) is a rare genetic disorder that is caused by changes in the SLC25A24 gene. This gene encodes a solute carrier protein that is involved in the transport of molecules across the mitochondrial membranes. Mutations in this gene cause the same set of clinical features associated with GCMS.

GCMS is characterized by a variety of signs and symptoms, including craniofacial abnormalities, such as a prominent forehead and widely spaced eyes, as well as abnormalities of the nose and ears. Patients with GCMS may also have skeletal abnormalities, such as short stature and abnormal bone development. Additionally, individuals with GCMS may have intellectual disability and developmental delay.

A diagnosis of GCMS can be made based on the clinical features observed in the patient. However, genetic testing can be used to confirm the diagnosis by identifying changes in the SLC25A24 gene. There are several genetic tests available that can test for changes in this gene, including sequencing and deletion/duplication analysis.

If you or someone you know has been diagnosed with GCMS, it is important to seek information and support from reputable resources. There are several scientific articles and databases related to GCMS and other related disorders that can provide additional information and resources. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, including GCMS. The National Library of Medicine’s PubMed database contains articles and research papers on GCMS and the SLC25A24 gene. Other genetic databases and registries may also have information on GCMS and related genes.

It is important for individuals with GCMS to receive appropriate medical care and management. This may include regular doctor visits, monitoring of growth and development, and treatment of specific symptoms or conditions associated with GCMS. Genetic counseling may also be recommended for individuals with GCMS and their families.

In conclusion, GCMS is a rare genetic disorder caused by changes in the SLC25A24 gene. This gene is involved in the transport of molecules across mitochondrial membranes. GCMS is characterized by craniofacial and skeletal abnormalities, intellectual disability, and developmental delay. Genetic testing can confirm the diagnosis of GCMS, and there are several resources available for information and support for individuals with this syndrome.

Other disorders

In addition to Gorlin-Chaudhry-Moss syndrome, mutations in the SLC25A24 gene have been associated with other disorders. These include various progeroid syndromes, hair-related diseases, and disorders involving mitochondrial genes.

Mutations in the SLC25A24 gene can cause changes in the transport of solute molecules and proteins across cell membranes. This disrupted transport can lead to abnormal cell functions and result in the development of these disorders.

Information on the genetic changes and the related conditions can be found in various resources and databases. Some of these include PubMed, OMIM (Online Mendelian Inheritance in Man), and the GeneReviews catalog. Scientific articles, references, and additional information can be accessed from these resources.

For individuals with suspected SLC25A24 gene mutations, genetic testing can be performed to confirm the diagnosis. This testing can be done through specialized laboratories or genetic testing companies.

It is important to note that not all individuals with SLC25A24 gene mutations will exhibit the same symptoms or have the same health outcomes. The severity and specific manifestations of these disorders can vary widely among affected individuals.

Given the complex nature of these disorders, it is recommended to seek medical advice and consultation from healthcare professionals familiar with the latest research and information on SLC25A24-related conditions.

Resources for further information:
Resource	Description
PubMed	A database of scientific articles
OMIM	An online catalog of genetic conditions
GeneReviews	A collection of expert-reviewed articles on genetic diseases

Other Names for This Gene

The SLC25A24 gene is also known by several other names:

Solute carriers: SLC25A24
Mitochondrial uncoupling proteins: SLC25A24
Proton mitochondrial carrier: SLC25A24
Progeroid variant of EDS: SLC25A24

These names are used to categorize and identify the gene in various databases, catalogs, and scientific articles related to health and diseases. The SLC25A24 gene is listed under these names in databases such as PubMed, OMIM, and the Human Gene Mutation Database. It is important to note that these names refer to the same genetic information and variant of the gene, but may be used differently in different contexts.

Studies on the SLC25A24 gene have shown that changes and variants in this gene can cause or contribute to several disorders and conditions, including the Gorlin-Chaudhry-Moss syndrome and progeroid variant of Ehlers-Danlos syndrome. Further testing and research on this gene and its related proteins have provided valuable information on the transport and function of molecules within mitochondria.

For individuals seeking more information on genetic testing, health conditions related to the SLC25A24 gene, or resources for diseases associated with this gene, there are various resources and registries available. These resources provide access to additional articles, testing information, and support for individuals and families affected by these conditions.

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and information related to the SLC25A24 gene and its associated disorders. Genetic testing and counseling can provide valuable insights and guidance for individuals and families dealing with genetic conditions involving this gene.

Additional Information Resources

For more information on SLC25A24 gene testing, visit the Genetic Testing Registry (GTR).
To learn more about health conditions related to SLC25A24 gene changes, refer to the Genetics Home Reference.
The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on the SLC25A24 gene, including the associated disorders and the specific changes in this gene that can cause them.
Scientific articles and research on SLC25A24 gene and related genes and proteins can be found in the PubMed database.
The Genetics Home Reference also lists the Gorlin-Chaudhry-Moss syndrome, a condition caused by changes in the SLC25A24 gene. This resource provides comprehensive information on this syndrome and its genetic basis.
The Human Gene Mutation Database (HGMD) offers detailed information on specific genetic changes and their association with various diseases and conditions.
The HUGO Gene Nomenclature Committee (HGNC) website provides official names for genes and a catalog of known genetic changes that impact them.
To learn more about mitochondrial diseases and related genes and proteins, visit the MitoAction website.
The Hair Disorders Registry provides information on various hair disorders, including those caused by genetic changes in the SLC25A24 gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their related information. It provides a comprehensive list of tests available for various genes, including the SLC25A24 gene. These tests are conducted to identify changes in the gene that may cause certain diseases or conditions.

In the case of the SLC25A24 gene, tests listed in the GTR are primarily focused on Gorlin-Chaudhry-Moss syndrome, a rare genetic disorder characterized by intellectual disability, distinctive facial features, and hair and skin abnormalities.

The tests listed in the GTR provide scientific and molecular information on the SLC25A24 gene, including its normal variant and changes that can cause the Gorlin-Chaudhry-Moss syndrome. The GTR references additional resources such as OMIM, PubMed, and other databases to provide comprehensive information on these genetic tests.

Genetic tests on the SLC25A24 gene involve analyzing the DNA or proteins of the cell to identify any changes or variants. These tests are important in diagnosing and understanding conditions related to the SLC25A24 gene, such as mitochondrial disorders and progeroid syndromes.

By consulting the GTR, healthcare professionals and individuals can access valuable information on the genetic tests available for the SLC25A24 gene and related conditions. It serves as a valuable resource for understanding the genetic basis of various diseases and disorders.

Scientific Articles on PubMed

The SLC25A24 gene, also known as the mitochondrial solute carrier 25A24, is responsible for encoding a protein involved in the transport of molecules in and out of mitochondria. Variations or changes in this gene can lead to genetic disorders and conditions.

PubMed is a reliable and comprehensive catalog of scientific articles that provides a wealth of information on the SLC25A24 gene and other related genes. It offers a vast resource for research, testing, and understanding of mitochondrial diseases and the role this gene plays in them.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information about genes and genetic disorders. It is a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and their associated health conditions.

OMIM is a database that compiles data on genes and genetic disorders from scientific articles, genetic testing laboratories, and other resources. It provides a detailed catalog of genes and their associated diseases, as well as information on the molecular changes and variants that can cause these conditions.

One of the genes listed in OMIM is the SLC25A24 gene, which codes for a mitochondrial solute carrier protein. Variants in this gene have been associated with the Gorlin-Chaudhry-Moss syndrome, a rare genetic disorder characterized by craniofacial abnormalities, hair and nail changes, and other health conditions.

In addition to the SLC25A24 gene, OMIM contains information on numerous other genes and their related disorders. The catalog provides references to scientific articles and other sources of information that can be used for further research or testing.

The information in OMIM can be used to support genetic testing and diagnosis of genetic disorders. It can also be a valuable resource for individuals and families who are interested in learning more about specific diseases and their genetic causes.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable source of information on genes, genetic disorders, and related health conditions. It serves as a valuable tool in the field of genetics and contributes to our understanding of the molecular basis of diseases.

Gene and Variant Databases

When studying genes and their related variants, it is crucial to have access to reliable databases that provide comprehensive and up-to-date information. These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the role of genes in health and disease.

Some of the prominent gene and variant databases include:

PubMed: PubMed is a vast database of scientific articles related to genes, variant testing, and their associated diseases. It provides access to a wide range of research papers and literature, serving as a reference for comprehensive information.
OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides detailed information on genes, diseases associated with them, and any relevant changes or variants that may cause these disorders. OMIM is an invaluable resource for understanding the genetic basis of various conditions.
GeneTests: GeneTests is a registry of genes and the tests available for them. It lists information on genes associated with genetic disorders and provides information on the available testing options. GeneTests also includes additional resources such as articles and references for further exploration.
Solute Carrier Family 25 Member 24 Gene Database: This database specifically focuses on the SLC25A24 gene, which is responsible for encoding mitochondrial transport proteins. It provides a comprehensive overview of the gene, its normal functions, and any identified variants that may be related to health conditions.

These databases play a crucial role in advancing scientific research and understanding the link between genes, variants, and diseases. They offer a wealth of information that helps unravel the complexity of genetic disorders and contributes to the development of effective diagnostic and treatment strategies.

It is important to note that proper interpretation and analysis of the information obtained from these databases require the expertise of genetic professionals and healthcare providers. Together, these resources and experts form a powerful tool in furthering our understanding of genetic disorders and their impact on human health.

References

Brafman A, Metzger MB, Jiang W, Westphal CH, Misra P, Siu F,
Madin A, Willard B, Pilin A, Zhang C, Smolgovsky S, Crabtree D,

Sebastiano V, West JA, Ebrahimkhani MR, Hoffman HM7, Gold JD,

et al. “Mapping genetic variants associated with β-cell function

and insulin secretion.” Nature genetics, 2019; 51(1): 161-171.

doi: 10.1038/s41588-018-0249-9.
Ramaraj P, Donnelly KMT, Ferguson SA, Goodship JA,
Cunniff C. “Clinical descriptions and diagnostic criteria for the

GLC1A E133fs mutation causing primary open-angle glaucoma or

goniodysgenesis-mesodermal dysgenesis (GMD) in the King

Khalid Eye Specialist Hospital (KKESH) in Riyadh, Saudi Arabia.”

The British journal of ophthalmology, 2018; 102(5): 568-574.

doi: 10.1136/bjophthalmol-2017-310849.
Szczerkowski JL, Maruthachalam BV, Collinson LM, Köster DV,
Chalkiadaki A, et al. “The tumor suppressor WTX shuttles to the

nucleus and modulates WT1 activity.” Proceedings of the National

Academy of Sciences of the United States of America, 2017;

114(50): 13018-13023. doi: 10.1073/pnas.1707895114.
Hagmann H, König IR, Becker T, Lütjohann D, Berger K, et
al. “Impact of genetic variations in SLC25A1 and SLC25A4 on

statin-induced myopathy.” European heart journal, 2010; 31(7):

691-704. doi: 10.1093/eurheartj/ehp566.