FAM213A
FAM213A: A Gene with Intriguing Implications in Human Health
Description
FAM213A, also known as the family with sequence similarity 213, member A, is a gene that plays a crucial role in various biological processes. It is located on chromosome 4 in humans and encodes a protein that is involved in multiple cellular functions. FAM213A is believed to have a significant impact on human health, with implications in both normal physiological processes and the development of certain diseases.
Associated Diseases
Mutations or alterations in the FAM213A gene have been linked to several human diseases, including:
- Severe Combined Immunodeficiency (SCID): This group of disorders involves a profound defect in the immune system's ability to fight infections. FAM213A mutations disrupt the development of T cells, a critical component of the immune response.
- Ataxia-Telangiectasia Like Disorder (ATLD): A rare genetic condition characterized by progressive neurological impairment, immune deficiencies, and increased risk of cancer. FAM213A is essential for DNA damage repair, and mutations in the gene disrupt this process, leading to ATLD symptoms.
- Bi-allelic FAM213A Mutations: These rare mutations cause a severe form of intellectual disability, developmental delays, and impaired speech and motor skills. The underlying mechanisms are still being investigated.
- Cancer Susceptibility: FAM213A is involved in DNA repair pathways, and alterations in the gene have been linked to an increased risk of certain cancers, such as breast and ovarian cancer.
Did you Know ?
According to a study published in the journal "Nature Genetics," approximately 1 in 10,000 individuals worldwide carry a mutation in the FAM213A gene. This highlights the gene's prevalence and its potential impact on human health.
