PROP1 gene, also known as prophet of Pit1, is a genetic variant that plays a crucial role in the differentiation and development of pituitary hormones. This gene helps control the production of hormones related to growth and development as well…
The SMCHD1 gene is a key gene involved in various genetic diseases and abnormalities. It has been cataloged and studied extensively in the scientific community. One of the conditions associated with mutations in the SMCHD1 gene is microphthalmia, which is…
The LRP2 gene, also known as the low-density lipoprotein receptor-related protein 2 gene, is an important gene associated with various health conditions. It is listed in various genetic databases and registries, and has been the subject of numerous scientific articles…
The HNF4A gene, also known as HNF4alpha, is a gene that provides instructions for making a protein called hepatocyte nuclear factor 4-alpha. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps…
Isolated sulfite oxidase deficiency is a rare genetic condition characterized by the inability to properly break down sulfites. Sulfite oxidase is an enzyme that plays a crucial role in the normal functioning of the body by converting sulfites into safer…
The POLH gene, also known as rad30, is a central gene involved in DNA repair. It is listed in various genetic databases and is associated with a variant of the xeroderma pigmentosum disease, known as XP-V. XP-V is characterized by…
The USB1 gene, also known as UFD1L, plays a crucial role in the biogenesis of the USB1 protein. This protein is involved in a process called exonuclease activity, which is responsible for the removal of nucleotides from the end of…
The ACADSB gene, also known as acyl-CoA dehydrogenase, short/branched chain, is a genetic enzyme that plays a crucial role in metabolic reactions related to tiglyl-CoA and short-branched chain acyl-CoA. This gene is listed in various databases and resources, including Pubmed,…
Fuchs endothelial dystrophy (FED) is a rare genetic eye disorder that affects the cornea, the clear, dome-shaped front surface of the eye. This condition is characterized by progressive corneal endothelial cell loss, leading to corneal swelling, vision impairment, and in…
Hypokalemic periodic paralysis is a rare condition that is associated with episodes of muscle weakness or paralysis. It is caused by mutations in genes that regulate potassium and calcium levels in muscle cells. The condition is more common in men…