SLC52A2

Chr 8AR

solute carrier family 52 member 2

Also known as: BVVLS2, D15Ertd747e, GPCR41, GPR172A, HuPAR-1, PAR1, RFT3, RFVT2

NCBI Gene: 79581 ENSG00000185803 UniProt: Q9HAB3 OMIM: 607882

This protein transports riboflavin (vitamin B2) across cell membranes, particularly in brain tissue, where riboflavin is processed into essential coenzymes FMN and FAD for cellular metabolism. Mutations cause Brown-Vialetto-Van Laere syndrome 2, an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. The pathogenic mechanism involves gain-of-function mutations that disrupt normal riboflavin transport.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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. [provided by RefSeq, Jul 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Brown-Vialetto-Van Laere syndrome 2MIM #614707

Clinical highlights

Gene-disease validity (ClinGen)

Brown-Vialetto-van Laere syndrome 2 · 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

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P/LP missense

0.97

LOEUF

LOF

Mechanism· G2P

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GeneReview available — SLC52A2