MVB12B
Chr 9multivesicular body subunit 12B
Also known as: C9orf28, FAM125B
The protein is a component of the ESCRT-I complex that sorts ubiquitinated cargo proteins from the plasma membrane into endosomal vesicles and multivesicular bodies. The gene has a relatively low LOEUF score (0.462) suggesting intolerance to loss-of-function variants, but no specific human diseases or inheritance patterns have been established for MVB12B mutations based on the provided information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MVB12B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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