Recombinant Human Riboflavin transporter 2 (RFT2), Truncated

Uniprot Id

Q9NQ40

Target Species

Human

Target Name

SLC52A3

Target Full Name

Solute carrier family 52, riboflavin transporter, member 3

Target Function

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. Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption.

Target Involvement

Brown-Vialetto-Van Laere syndrome 1 (BVVLS1); Fazio-Londe disease (FALOND)

Target Subcellular Location

Apical cell membrane; Multi-pass membrane protein. Cell membrane.; [Isoform 1]: Cell membrane; Multi-pass membrane protein. Nucleus membrane; Multi-pass membrane protein. Cytoplasm.; [Isoform 2]: Cytoplasm.

Target Protein Families

Riboflavin transporter family

Target Tissue Specificity

Predominantly expressed in testis. Highly expressed in small intestine and prostate.

Target Synonyms

bA371L19.1; BVVLS; BVVLS1; C20orf54; C20orf54provided by HGNC; Chromosome 20 open reading frame 54; hRFT2; member 3; MGC10698; RFT2; RFVT3; Riboflavin transporter 2; riboflavin transporter; riboflavin transporter, member 3; S52A3_HUMAN; Slc52a3; solute carrier family 52 (riboflavin transporter), member 3; Solute carrier family 52; solute carrier family 52, riboflavin transporter, member 3

Target Background

This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease.