SLC52A3

Chr 20AR

solute carrier family 52 member 3

Also known as: BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2

NCBI Gene: 113278 ENSG00000101276 UniProt: Q9NQ40 OMIM: 613350

This gene encodes a riboflavin transporter protein that facilitates intestinal absorption of riboflavin and localizes to the apical cell membrane with eleven transmembrane domains. Autosomal recessive mutations cause Brown-Vialetto-Van Laere syndrome 1 and Fazio-Londe disease through a dominant-negative mechanism. The protein's disrupted function leads to riboflavin deficiency affecting neuronal metabolism and survival.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Fazio-Londe diseaseMIM #211500

Brown-Vialetto-Van Laere syndrome 1MIM #211530

Clinical highlights

Gene-disease validity (ClinGen)

Brown-Vialetto-van Laere syndrome 1 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — SLC52A3