SELENBP1
Chr 1ARselenium binding protein 1
Also known as: EHMTO, HEL-S-134P, LPSB, MTO, SBP56, SP56, hSBP
This protein catalyzes the oxidation of methanethiol, an organosulfur compound produced by gut bacteria, and functions as a selenium-binding protein involved in sensing reactive xenobiotics. Mutations cause extraoral halitosis due to methanethiol oxidase deficiency, inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variation, consistent with a recessive disorder affecting a specific metabolic pathway.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
142 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 12 | 0 | 13 |
Likely Pathogenic | 1 | 2 | 1 | 0 | 4 |
VUS | 0 | 75 | 4 | 0 | 79 |
Likely Benign | 0 | 1 | 4 | 4 | 9 |
Benign | 0 | 3 | 3 | 3 | 9 |
| Total | 2 | 81 | 24 | 7 | 114 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SELENBP1 · 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 →External Resources
Links to major genomics databases and tools