SLC52A3 solute carrier family 52 member 3
Gene ID: 113278, updated on 4-Jan-2025Gene type: protein coding
Also known as: RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC52A3
- Go to Variation Viewer for SLC52A3 variants
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]
Associated conditions
Genomic context
- Location:
- 20p13
- Sequence:
- Chromosome: 20; NC_000020.11 (760080..780033, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC52A3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC52A3 database
- Variation ViewerRelated Variants
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