CHMP7

Chr 8

charged multivesicular body protein 7

NCBI Gene: 91782 ENSG00000147457 UniProt: Q8WUX9 OMIM: 611130

The CHMP7 protein is an ESCRT-III-like component required for nuclear envelope sealing and mitotic spindle disassembly during cell division, and also functions in endosomal sorting pathways. Mutations cause autosomal recessive microcephaly, seizures, and developmental delay. This gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Involved in several processes, including midbody abscission; mitotic nuclear division; and vacuolar transport. Located in several cellular components, including bounding membrane of organelle; chromosome; and nucleus. Part of ESCRT III complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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

0.38

LOEUF

—

Mechanism