anticorps GPR172A, anticorps MGC79729, anticorps GPR172B, anticorps gpcr41, anticorps GPCR42, anticorps PAR2, anticorps RBFVD, anticorps RFT1, anticorps RFVT1, anticorps hRFT1, anticorps Gpr172a, anticorps Gpr172b, anticorps RGD1560410, anticorps rRFT1, anticorps POPAR, anticorps 2010003P03Rik, anticorps D15Ertd747e, anticorps mRFT1, anticorps solute carrier family 52 member 1, anticorps solute carrier family 52 member 2, anticorps solute carrier family 52 (riboflavin transporter), member 1, anticorps solute carrier family 52 (riboflavin transporter), member 1 L homeolog, anticorps solute carrier protein 52, member 2, anticorps SLC52A1, anticorps SLC52A2, anticorps slc52a1, anticorps slc52a1.L, anticorps Slc52a2
Sujet
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