SLC5A6

Chr 2AR

solute carrier family 5 member 6

Also known as: COMNB, NERIB, SMVT, SMVTD, hSMVT

NCBI Gene: 8884 ENSG00000138074 UniProt: Q9Y289 OMIM: 604024

This protein functions as a sodium-dependent multivitamin transporter that mediates uptake of biotin, pantothenate, and lipoate across intestinal and blood-brain barriers. Mutations cause autosomal recessive sodium-dependent multivitamin transporter deficiency, presenting as childhood-onset peripheral motor neuropathy that is responsive to biotin supplementation. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.53), consistent with its essential role in vitamin transport to critical tissues including the nervous system.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables biotin transmembrane transporter activity; iodide transmembrane transporter activity; and pantothenate transmembrane transporter activity. Involved in iodide transmembrane transport; transport across blood-brain barrier; and vitamin transmembrane transport. Located in apical plasma membrane. Implicated in vitamin metabolic disorder. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Peripheral motor neuropathy, childhood-onset, biotin-responsiveMIM #619903

Sodium-dependent multivitamin transporter deficiencyMIM #618973

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.53

LOEUF

LOF

Mechanism· G2P