GPR172A antibody, MGC79729 antibody, GPR172B antibody, gpcr41 antibody, GPCR42 antibody, PAR2 antibody, RBFVD antibody, RFT1 antibody, RFVT1 antibody, hRFT1 antibody, Gpr172a antibody, Gpr172b antibody, RGD1560410 antibody, rRFT1 antibody, POPAR antibody, 2010003P03Rik antibody, D15Ertd747e antibody, mRFT1 antibody, solute carrier family 52 member 1 antibody, solute carrier family 52 member 2 antibody, solute carrier family 52 (riboflavin transporter), member 1 antibody, solute carrier family 52 (riboflavin transporter), member 1 L homeolog antibody, solute carrier protein 52, member 2 antibody, SLC52A1 antibody, SLC52A2 antibody, slc52a1 antibody, slc52a1.L antibody, Slc52a2 antibody
Background
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. Alias Symbols: PAR1, RFT3, RFVT2, hRFT3, BVVLS2, GPCR41, GPR172A, D15Ertd747e Protein Size: 350