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COMNB
Chr 2ARsolute carrier family 5 member 6
Also known as: COMNB, NERIB, SMVT, SMVTD, hSMVT
The protein functions as a transmembrane transporter for biotin, iodide, and pantothenate, facilitating vitamin transport across the blood-brain barrier. Mutations cause peripheral motor neuropathy with childhood onset that responds to biotin supplementation. Inheritance is autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/COMNB?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COMNB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools