LOC100129345
Loc100129345
Description:
Loc100129345 is a gene that encodes a protein known as Calcium-binding EF-hand protein 1 (CaBP1). CaBP1 is a small, calcium-binding protein that plays a crucial role in regulating intracellular calcium homeostasis. It is primarily localized in the cytoplasm and nucleus of cells.
CaBP1 has two EF-hand motifs, which are regions of the protein that bind calcium ions. When calcium levels increase in the cell, CaBP1 undergoes a conformational change that exposes a hydrophobic region on its surface. This allows CaBP1 to interact with other proteins and modulate their function.
Associated Diseases:
Mutations in the LOC100129345 gene have been linked to several diseases, including:
- Congenital Cataracts: Cataracts are a clouding of the lens of the eye, which can lead to blurred vision or loss of sight. Mutations in LOC100129345 have been associated with an autosomal dominant form of congenital cataracts, which is inherited from one affected parent.
- Neuroblastoma: Neuroblastoma is a type of childhood cancer that affects the sympathetic nervous system. Mutations in LOC100129345 have been identified in a small number of neuroblastoma cases.
- Bardet-Biedl Syndrome: Bardet-Biedl Syndrome (BBS) is a rare genetic disorder characterized by a combination of symptoms, including obesity, mental retardation, and kidney disease. Mutations in LOC100129345 have been linked to one type of BBS.
Did you Know ?
- Mutations in LOC100129345 are responsible for approximately 5% of cases of congenital cataracts.
