The ERAP1 gene, also known as ERAAP (endoplasmic reticulum aminopeptidase 1), is a gene that encodes a protein involved in the processing of peptides that are presented on major histocompatibility complex class I molecules. This gene is located on chromosome…
Deafness-dystonia-optic neuronopathy syndrome, also known as Tranebjaerg syndrome, is a rare genetic condition that causes a combination of deafness, dystonia (uncontrolled muscle contractions), and optic neuronopathy (damage to the optic nerve). It is caused by mutations in the TIMM8A gene,…
Purine nucleoside phosphorylase deficiency is a rare genetic condition caused by a deficiency of the enzyme purine nucleoside phosphorylase. This enzyme is responsible for breaking down certain nucleosides, such as guanosine and deoxyguanosine, into their respective bases and ribose or…
Chorea-acanthocytosis is a rare genetic disorder that causes impaired muscle control and abnormal red blood cells. It is also known as chorein deficiency syndrome and is associated with the CHAC gene. The condition is characterized by frequent and involuntary movements…
The MYO5A gene is a certain gene that is located within the complex of genes related to myosin-Va, a myosin protein involved in intracellular transport. This gene is listed in the catalog of pastural conditions and diseases, as it has…
Cholangiocarcinoma, also known as biliary tract cancer, is a rare and aggressive form of cancer that occurs in the bile ducts. These ducts are responsible for carrying bile, a fluid that helps with digestion, from the liver to the small…
22q112 deletion syndrome, also known as DiGeorge syndrome, is a genetic condition associated with a small piece of chromosome 22 missing. It is characterized by a wide range of clinical signs and symptoms, including developmental delays, learning disabilities, and distinctive…
The ATL1 gene, particularly the 3A variant, is a genetic condition associated with several nerve-related disorders, including spastic paraplegia. It plays a crucial role in the formation and regulation of cell tracts in the spinal cord and other parts of…
The CDC73 gene, also known as the Cell Division Cycle 73 gene, is a gene that is important for the normal functioning of cells. It is located on chromosome 1 and is involved in the development and regulation of a…
SLC39A14 gene, also known as ZIP14, is a member of the SLC39A family of solute carriers. It codes for a transmembrane protein that is involved in the transport of zinc and other divalent metals across cellular membranes. This gene is…