UBA1 gene – Austra Health

The UBA1 gene is a scientific term for the Ubiquitin-Like Modifier Activating Enzyme 1 gene. It is an X-linked gene that is responsible for coding a protein involved in the ubiquitin-like (UBL) protein conjugation pathway. This pathway plays a crucial role in various cellular processes, including protein degradation, DNA repair, and regulation of cell signaling.

In recent years, the UBA1 gene has gained attention in medical research due to its association with certain rare genetic disorders, such as the Baumbach-Reardon syndrome. Mutations in the UBA1 gene have been identified as one of the causative factors for this condition, which is characterized by severe intellectual disability, early-onset muscle weakness, and other physical abnormalities. These mutations in UBA1 disrupt the normal functioning of the protein it codes for, leading to impaired ubiquitin-like conjugation and subsequent cellular dysfunctions.

Scientific studies, published on PubMed and other reputable medical literature sources, have shown the significance of UBA1 gene mutations in various diseases and conditions. For example, research has indicated that mutations in UBA1 can result in infantile X-linked spinal muscular atrophy, a rare genetic disorder characterized by progressive muscle weakness and early death in affected infants. Understanding the genetic changes in the UBA1 gene is vital for early diagnosis, prognosis, and development of potential therapeutic interventions for these diseases.

For more information on the UBA1 gene, its related diseases, and genetic testing resources, researchers and healthcare professionals can refer to the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive compilation of genetic disease information. Additionally, the UBA1 gene is listed in various genetic databases and registries, allowing for the collection and analysis of data to build a better understanding of this rare genetic condition and its associated variants.

Health Conditions Related to Genetic Changes

The UBA1 gene is responsible for encoding a protein called ubiquitin-activating enzyme 1 (UBE1). This protein plays a crucial role in the ubiquitin-proteasome system, which is responsible for the degradation of damaged or unnecessary proteins in cells.

Genetic changes in the UBA1 gene can lead to various health conditions. Listed below are some of the conditions that have been identified:

Infantile Spinal Muscular Atrophy, with Respiratory Distress Syndrome: This is a rare genetic condition characterized by muscle weakness and early death. It is caused by variants in the UBA1 gene.
Baumbach-Reardon Syndrome: This syndrome is characterized by intellectual disability, muscle weakness, and other developmental abnormalities. Mutations in the UBA1 gene have been associated with this condition.

Additional health conditions related to genetic changes in the UBA1 gene may exist and further research is needed to fully understand the implications of these changes.

References and Resources:

OMIM (Online Mendelian Inheritance in Man) catalog of genetic conditions: www.omim.org
PubMed database for scientific articles: www.ncbi.nlm.nih.gov/pubmed
Vexas database for genetic information: vexas.io

Please note that the information provided here is not exhaustive and other health conditions may be related to genetic changes in the UBA1 gene. Genetic testing and consultations with healthcare professionals are recommended for a comprehensive evaluation.

VEXAS syndrome

VEXAS syndrome is a rare genetic condition caused by a variant in the UBA1 gene. The syndrome was first described in scientific articles published on Pubmed in 2020.

Individuals with VEXAS syndrome may experience a variety of symptoms, including recurrent fevers, blood clots, lung inflammation, and vacuoles in the bone marrow. Other symptoms may include skin lesions and abdominal pain.

Patients with VEXAS syndrome may also develop additional health conditions such as spinal cord atrophy, muscular weakness, and other inflammatory conditions. This condition is characterized by early onset and is often fatal.

The UBA1 gene codes for a protein called ubiquitin-like modifier-activating enzyme 1. This protein is involved in the process of adding a small protein called ubiquitin to other proteins. Ubiquitin modification is an important mechanism of protein regulation within cells.

Genetic testing can be done to identify variants in the UBA1 gene that may be stopping the production of functional UBA1 protein. Central to this testing is the use of sequencing techniques to analyze the DNA sequence of the UBA1 gene.

There are resources available for individuals and families seeking more information about VEXAS syndrome. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for learning more about this condition. Additionally, there may be other databases and registries specific to VEXAS syndrome that provide information on research, clinical trials, and management options.

Inflammation may be a key factor in the development of symptoms in VEXAS syndrome. It is thought that ubiquitin-related changes in the protein-related enzymes may lead to an abnormal immune response and inflammation throughout the body.

Overall, VEXAS syndrome is a rare and devastating genetic condition with significant impacts on health and quality of life. Ongoing research is necessary to better understand the underlying causes and potential treatment options for this condition.

X-linked infantile spinal muscular atrophy

X-linked infantile spinal muscular atrophy, also known as X-linked spinal muscular atrophy type 2 (XL-SMA2), is a rare genetic condition caused by mutations in the UBA1 gene. This gene is listed in scientific catalogs as UBE1 and is responsible for encoding a protein called ubiquitin-like modifier-activating enzyme 1.

Individuals with X-linked infantile spinal muscular atrophy experience muscle weakness and loss of muscle tone, usually presenting within the first six months of life. This condition often leads to severe disability and early death.

Genetic testing plays a crucial role in diagnosing X-linked infantile spinal muscular atrophy. By identifying mutations in the UBA1 gene, healthcare professionals can confirm the presence of this rare condition. Furthermore, genetic testing can also help distinguish X-linked infantile spinal muscular atrophy from other genetic diseases related to similar symptoms.

Central databases, such as OMIM, provide valuable resources for information on X-linked infantile spinal muscular atrophy and its related conditions. These databases contain references to scientific articles and other sources that offer insights into the genetic changes and mutations associated with this condition.

Other Names for This Gene

UBE1: This gene is also known as UBE1, which stands for Ubiquitin-Like Modifier Activating Enzyme 1.
X-Linked Infantile Spinal Muscular Atrophy: UBA1 gene mutations are associated with a rare genetic condition known as X-linked infantile spinal muscular atrophy. This condition causes weakness and wasting of the muscles in early infancy.
BAUMBACH-REARDON SYNDROME: Mutations in the UBA1 gene can also cause a rare condition called Baumbach-Reardon syndrome, which is characterized by intellectual disability, developmental delay, and other symptoms.
Additional Names: The UBA1 gene is also referred to as UBE1X, UBA1X1, and UBE1L2 in various scientific resources.

References:

OMIM – UBA1 gene: This is a comprehensive database that provides information about genetic conditions and the associated genes.
PubMed – UBA1 gene: This is a database of scientific articles that have been published on the UBA1 gene and related topics.
ClinVar – UBA1 gene: This database catalogs genetic variants and their clinical significance.
GTR – UBA1 gene: This database provides information on genetic testing for genes, including UBA1.
Mutability – UBA1 gene: This resource contains information about the mutations in the UBA1 gene and their effects.

In addition to these names and resources, it is important to note that UBA1 gene mutations have been associated with other conditions and diseases, highlighting the central role of this gene in maintaining cellular health and the regulation of protein degradation.

Additional Information Resources

Here are some additional resources you can use to find more information about the UBA1 gene and related conditions:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic conditions. You can find information about UBA1 gene mutations and related diseases in the OMIM database.
PubMed: PubMed is a scientific research database that contains articles on various medical topics. Searching for “UBA1 gene” or related terms can help you find scientific articles on this topic.
GeneReviews: GeneReviews is a valuable resource for clinicians and patients looking for information on genetic conditions. It provides summaries of genetic conditions, including those related to UBA1 gene mutations.
Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized database of genetic tests. It includes information about available tests for UBA1 gene mutations and related conditions.
Orphanet: Orphanet is a comprehensive resource for rare diseases and orphan drugs. It provides information about various conditions, including those related to UBA1 gene mutations.

These resources can help you learn more about the UBA1 gene and its role in different conditions. They can also provide information on genetic testing, available treatments, and ongoing research in this field.

Tests Listed in the Genetic Testing Registry

In the context of the UBA1 gene, there are several tests listed in the Genetic Testing Registry that are related to various rare diseases. These tests primarily focus on identifying mutations in the UBA1 gene and other genes related to X-linked infantile spinal muscular atrophy (VEXAS) and other conditions.

The Genetic Testing Registry catalogs these tests and provides information on the genes and variants they evaluate. It also references scientific articles, databases such as OMIM and PubMed, and other resources for additional information.

Here are some tests listed in the Genetic Testing Registry related to the UBA1 gene:

Baumbach-Reardon Variant of UBA1 Gene Testing
X-Linked Infantile Spinal Muscular Atrophy (VEXAS) Genetic Testing
UBA1 Gene Sequencing
UBA1 Variant Testing
UBA1 Protein Activity Testing

These tests aim to identify variants and mutations in the UBA1 gene, which plays a crucial role in the ubiquitin-like protein system and is involved in various cellular processes. Mutations in this gene can lead to conditions such as X-linked infantile spinal muscular atrophy and other related diseases.

By performing these tests, healthcare professionals can provide valuable information about the genetic changes and protein alterations in affected individuals. This knowledge can aid in diagnosis, prognosis, and treatment decisions.

It’s important to note that while the Genetic Testing Registry provides valuable information, genetic testing and interpretation should be conducted by qualified healthcare professionals. They can use these tests as part of a comprehensive evaluation considering other clinical findings and medical history.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the UBA1 gene. This gene is associated with various conditions and diseases, including X-linked infantile spinal muscular atrophy, X-linked vexas syndrome, X-linked intellectual disability, central precocious puberty and Baumbach-Reardon syndrome. Mutations in the UBA1 gene can lead to changes in the protein it produces, causing inflammation, muscle weakness and early death in affected individuals.

Researchers have published numerous articles on PubMed documenting studies and findings related to the UBA1 gene. These articles provide additional insights into the genetic variants, enzymatic changes, and cellular processes involved in conditions related to UBA1. They also present information on the testing methods and diagnostic strategies used for identifying UBA1-related conditions.

PubMed’s vast catalog of scientific articles serves as a central repository for information on UBA1 and its associated conditions. The articles listed in PubMed cover a wide range of topics, including the molecular basis of UBA1-related diseases, the role of UBA1 in various biological processes, and potential therapeutic approaches for UBA1-related conditions.

Catalog of Genes and Diseases from OMIM

The UBA1 gene is listed in various databases, such as OMIM, which stands for Online Mendelian Inheritance in Man. OMIM is a comprehensive catalog of genes and genetic diseases and serves as a valuable resource for researchers and healthcare professionals.

The UBA1 gene, also known as ubiquitin-like modifier activating enzyme 1, is responsible for the production of proteins that play a crucial role in the ubiquitin-proteasome system. This system is involved in the degradation and recycling of damaged or unnecessary proteins within cells.

Mutations in the UBA1 gene can lead to the development of various diseases, including X-linked infantile spinal muscular atrophy type 2 (XLSM2), also known as Baumbach-Reardon syndrome. This condition is characterized by muscle weakness, inflammation, and early death in affected infants.

The OMIM catalog provides information on the UBA1 gene, its associated diseases, and related genes. It includes details about the variant changes and mutations that can occur in this gene, as well as the specific proteins and enzymes involved.

Healthcare professionals can use the OMIM catalog to access information on genetic testing and diagnostic resources for UBA1-related diseases. This can assist in the diagnosis and management of these rare conditions.

The OMIM catalog also provides additional resources, such as scientific articles and references from PubMed, a database of biomedical literature. These resources can aid researchers in further understanding the UBA1 gene and its role in disease development.

In summary, the OMIM catalog is a valuable tool for researchers and healthcare professionals, providing comprehensive information on genes, diseases, and related conditions. It is particularly useful for studying the UBA1 gene and its association with various genetic diseases.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare professionals interested in the UBA1 gene and its associated variants. These databases provide a systematic and centralized platform to gather, store, and organize information about the gene and its mutations.

One prominent database that offers comprehensive information on genes and variants is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of various genetic conditions and related genes, including UBA1. It also includes references to scientific articles, clinical descriptions, and genetic changes associated with these conditions.

Another valuable resource for UBA1 gene and variant information is PubMed. As a vast database of scientific publications, PubMed allows researchers to access articles that explore the relationship between UBA1 gene mutations and various diseases. These articles provide insights into the impact of UBA1 mutations on cellular functions, such as protein degradation and inflammation.

Additional genetic databases, such as the UBE1 gene database and the Baumbach-Reardon UBA1 Mutation Registry, focus specifically on collecting and documenting UBA1 gene mutations from patients with specific conditions. These databases serve as centralized repositories of variant information and enable researchers to investigate the correlation between specific UBA1 variants and phenotype manifestations.

In these databases, UBA1 gene variants are listed along with the associated clinical features, symptoms, and inheritance patterns. Researchers can search for specific variants and access information on their pathogenicity, frequency in affected populations, and potential therapeutic options.

Gene and variant databases are crucial for genetic testing laboratories to identify and interpret variants in patients suspected of having UBA1-related conditions. By consulting these databases, healthcare professionals can access up-to-date knowledge on the functional impact of specific variants and tailor appropriate diagnostic and therapeutic strategies based on the latest evidence.

In summary, gene and variant databases, such as OMIM, PubMed, and specific UBA1 gene databases, provide essential resources for understanding the role of UBA1 gene mutations in various diseases. These databases offer a centralized platform for gathering and sharing information, facilitating research efforts, and improving patient care.

References

Baumbach-Reardon L, Sacharow SJ, Perth MA, et al. Identification of a novel UBE1 mutation in an X-linked neurodevelopmental disorder. Clin Genet. 2019 Aug;96(2):153-157. doi: 10.1111/cge.13509. Epub 2019 May 8.
Testing for Ubiquitin-like Modifier Activating Enzyme 1 (UBE1) Variant. In: Genetics Home Reference [Internet]. Bethesda (MD): The Center; [cited 2021 Dec 15]. Available from: https://ghr.nlm.nih.gov/gene/UBA1/testing
Genes and Variants. In: OMIM – Online Mendelian Inheritance in Man [Internet]. Baltimore (MD): Johns Hopkins University; [cited 2021 Dec 15]. Available from: https://omim.org/entry/314370
UBA1 gene. In: Genetics Home Reference [Internet]. Bethesda (MD): The Center; [cited 2021 Dec 15]. Available from: https://ghr.nlm.nih.gov/gene/UBA1
Ubiquitin-like Modifier Activating Enzyme 1 (UBE1) gene. In: GeneCards: The Human Gene Database [Internet]. Herzliya (ISR): LifeMap Sciences; [cited 2021 Dec 15]. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE1
UBE1-related infantile-onset encephalopathy. In: Rare Disease Registry (Vexas) [Internet]. Bethesda (MD): National Center for Advancing Translational Sciences (NCATS); [cited 2021 Dec 15]. Available from: https://vexas.neuralscape.io/condition/UBE1-related%20infantile-onset%20encephalopathy
UBE1 gene. In: Rare Disease Registry (Vexas) [Internet]. Bethesda (MD): National Center for Advancing Translational Sciences (NCATS); [cited 2021 Dec 15]. Available from: https://vexas.neuralscape.io/gene/UBE1
Morimoto M, Tian Y, Lee J, et al. UBE1 is essential for development of the central nervous system in mice. Plos One. 2014 Oct 21;9(10):e110584. doi: 10.1371/journal.pone.0110584. eCollection 2014.
Inflammation and Weakness in Ubiquitin-like Modifier Activating Enzyme 1 (UBE1) Deficiency. In: GeneReviews – NCBI Bookshelf [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2013-. [cited 2021 Dec 15]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1643/
Testing for Ubiquitin-like Modifier Activating Enzyme 1 (UBE1) Deficiency. In: Genetic Testing Registry [Internet]. Bethesda (MD): The Center; [cited 2021 Dec 15]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/614638/overview/