BMERB1

Chr 16

bMERB domain containing 1

Also known as: C16orf45, MINP

NCBI Gene: 89927 ENSG00000166780 UniProt: Q96MC5

The protein is predicted to negatively regulate microtubule depolymerization and control cell motility during cerebral cortex radial glia guided migration within the microtubule cytoskeleton. Mutations in BMERB1 have not been definitively associated with human disease, as this appears to be a predicted gene with limited functional validation. The gene shows relatively low constraint to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq

Predicted to be involved in negative regulation of microtubule depolymerization. Predicted to act upstream of or within negative regulation of cell motility involved in cerebral cortex radial glia guided migration. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.78

LOEUF

Multiple*

Mechanism· predicted