LOC115110
Description:
Loc115110 is a gene that encodes a protein known as solute carrier family 38, member 5 (SLC38A5). This protein is a sodium-dependent amino acid transporter that plays a crucial role in the absorption of essential amino acids from the intestine. It is expressed in various tissues, including the kidney, liver, and pancreas.
Associated Diseases:
Mutations in the loc115110 gene have been linked to several medical conditions:
- Neonatal intrahepatic cholestasis with bile acid synthesis defects (NICCD): This rare liver disorder is characterized by impaired bile acid synthesis and accumulation of bile acids in the liver. It can lead to liver damage and eventually liver failure.
- Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS): This autoinflammatory condition causes recurrent episodes of fever, abdominal pain, and arthritis.
- Inflammatory bowel disease (IBD): Mutations in loc115110 have been associated with an increased risk of Crohn's disease and ulcerative colitis.
Did you Know ?
A large-scale genetic study found that approximately 0.5% of the population carries a mutation in the loc115110 gene. These mutations are more common in individuals of East Asian descent.
