SLC52A3 : solute carrier family 52 member 3
Description
The SLC52A3 (solute carrier family 52 member 3) is a protein-coding gene located on chromosome 20.
The SLC52A3 gene (previously called the C20orf54 gene) provides instructions for making a riboflavin transporter protein called RFVT3 (formerly known as RFT2). This protein moves (transports) a vitamin called riboflavin (also called vitamin B2) across the cell membrane. Riboflavin cannot be made by the body, so it must be obtained from the food a person eats. The RFVT3 protein is found at especially high levels in cells of the small intestine and is important for absorbing riboflavin during digestion so that the vitamin can be used in the body. In the cells of the body, riboflavin is the core component of molecules called flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). These molecules function as coenzymes, which means they help enzymes carry out chemical reactions. FAD and FMN are involved in many different chemical reactions and are required for a variety of cellular processes. One important role of these coenzymes is in the production of energy for cells. FAD and FMN are also involved in the breakdown (metabolism) of carbohydrates, fats, and proteins.
Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
SLC52A3 is also known as BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2.
Associated Diseases
- Bulbar palsy, progressive, of childhood
- Brown-Vialetto-Van Laere syndrome 1
- Riboflavin transporter deficiency neuronopathy
