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