SLC52A2

Name

solute carrier family 52 member 2

Type

protein-coding

Position

144,333,957–144,361,447 (+)

Aliases

BVVLS2, D15Ertd747e, GPCR41, GPR172A, HuPAR-1, PAR1, RFT3, RFVT2, hRFT3

Ensembl

ENSG00000185803

RefSeq RNA

NM_001253815.2, NM_001253816.2, NM_001363118.2, NM_001363120.2, NM_001363121.2

RefSeq protein

NP_001240744.1, NP_001240745.1, NP_001350047.1, NP_001350049.1, NP_001350050.1

This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012].

via MyGene.info

Wikidata facts

via Wikidata · CC0