A gene variant is a specific version of a gene. Genes are the segments of DNA that contain the instructions for building and maintaining the cells and tissues in our bodies. Each person has two copies of each gene, one…
The FKTN gene, also known as the fukutin gene, helps in the form of proteins that prevent muscular disorders. This gene is particularly related to a condition called Fukuyama-type muscular dystrophy, a rare genetic disorder that causes muscular weakness and…
Congenital bilateral absence of the vas deferens (CBAVD) is a rare genetic condition that causes the absence of the vas deferens, which is the duct that carries sperm from the testes to the urethra. This condition occurs in males and…
Triosephosphate isomerase deficiency is a rare genetic condition that is associated with a mutation in the gene for the enzyme triosephosphate isomerase. This condition typically causes a range of symptoms, including muscle weakness, brain abnormalities, and heart problems. It is…
Carbonic anhydrase VA deficiency is an inherited condition caused by mutations in the CA5A gene. It is associated with the mitochondrial enzyme carbonic anhydrase VA. This deficiency leads to a condition called hyperammonemia, where there is an abnormally high level…
The PHKA1 gene, also known as phosphorylase kinase alpha 1, is responsible for the production of subunits of phosphorylase kinase in the liver and muscles. This gene plays a crucial role in the breakdown of glycogen, a stored form of…
Diastrophic dysplasia is a rare genetic condition characterized by skeletal abnormalities and short stature. It is one of the more common types of dwarfism, with an estimated frequency of 1 in 100,000 newborns. This condition is associated with mutations in…
Succinate-CoA ligase deficiency, also known as suclg1 deficiency, is a rare genetic condition associated with the depletion of succinate-CoA ligase, an enzyme crucial for the metabolism of succinate-coenzyme A (succinyl-CoA). This condition is caused by mutations in the SUCGL1 gene,…
The PMS2 gene is a crucial component of the DNA mismatch repair (MMR) system. While the MMR system is primarily known for its role in correcting DNA replication errors, it also plays an essential role in maintaining the stability of…
Hereditary Sensory Neuropathy Type IA (HSN IA), also known as Morbus Hereditary Sensory and Autonomic Neuropathy Type IA (HSAN IA), is a rare genetic condition characterized by the progressive degeneration of sensory nerve fibers. HSN IA is caused by mutations…