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 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,…
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…
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…
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…
Malignant Migrating Partial Seizures of Infancy (MMPSeI) is a rare genetic condition that affects infants in the first few months of life. It is characterized by frequent seizures that can occur multiple times in a day. These seizures are known…
The RAB23 gene is a central player in cellular signaling pathways. It is involved in various conditions and diseases, including genetic syndromes such as Carpenter syndrome and Wilkie syndrome. The gene, also known as RAB23, is listed in scientific databases…
The FKBP10 gene, also known as the FKBP65 gene, is located on chromosome 17. It is involved in a genetic condition called osteogenesis imperfecta (OI), which leads to brittle bones and other deformities. FKBP10 is a member of the FK506-binding…
The SDHAF2 gene, also known as SDH5, is a nuclear gene that encodes a protein called succinate dehydrogenase complex assembly factor 2. This protein plays a critical role in stabilizing the succinate dehydrogenase (SDH) complex, which is involved in the…
Sheldon-Hall Syndrome, also known as distal arthrogryposis type 2B, is a rare genetic condition that affects the muscles and joints, causing limited movement and contractures in the hands, feet, and other parts of the body. It is caused by mutations…