The ARSB gene, also known as the N-acetylgalactosamine-4-sulfatase gene, is involved in the production of an enzyme called arylsulfatase B. This gene is responsible for the synthesis of sulfatases, which play a crucial role in the breakdown and recycling of…
The human genome is a complex structure composed of 23 pairs of chromosomes, each containing thousands of genes. Chromosome 14 is one of these pairs and it plays a crucial role in our health and development. It has been linked…
2q37 deletion syndrome, also known as “2q37 monosomy” or “deletion 2q37 syndrome”, is a rare genetic condition that occurs when a small piece of genetic material is missing from one of the body’s 46 chromosomes. The condition is caused by…
The SERAC1 gene is a part of the mitochondrial genes responsible for various conditions that affect human health. This gene plays an essential role in maintaining the integrity of mitochondrial membrane structure and function. Changes or mutations in the SERAC1…
The AFF2 gene, also known as the FMR2 gene, codes for a protein called AFF2 protein. The protein is an RNA-binding protein that plays a critical role in gene expression regulation. It has been associated with a variety of genetic…
The MT-TH gene is a gene that encodes for the transfer RNA for the mitochondrial mRNAs. It is responsible for the synthesis of certain proteins that are essential for the functioning of the mitochondria. Mutations in the MT-TH gene can…
The AMACR gene, also known as alpha-methylacyl-CoA racemase, is a gene that is listed as a cause of several genetic disorders. It is an important gene that plays a role in fatty acid metabolism, specifically in the breakdown and synthesis…
Ataxia-pancytopenia syndrome is a rare genetic condition characterized by the development of myelocerebellar ataxia and pancytopenia. It affects the central nervous system, specifically the brain, and also leads to abnormalities in blood cells. Patients with ataxia-pancytopenia syndrome experience difficulties with…
The VCP gene, also known as valosin-containing protein, is a gene that provides instructions for making a protein called VCP. This protein plays a key role in the function of cells, including the regulation of protein degradation and the maintenance…
The RNASEH2A gene is part of the RNASEH2 complex, which plays a crucial role in maintaining genome stability by resolving RNA-DNA hybrids. Mutations in this gene have been associated with a variety of diseases, including Aicardi-Goutières syndrome and other related…