Gene Symbol | SLC52A3 |
Entrez Gene ID | 113278 |
Full Name | solute carrier family 52 member 3 |
Synonyms | BVVLS,BVVLS1,C20orf54,RFT2,RFVT3,bA371L19.1,hRFT2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | Brown-Vialetto-Van Laere syndrome 1, 211530 (3); ?Fazio-Londe disease, 211500 (3) |