COMMD9

Chr 11

COMM domain containing 9

Also known as: C11orf55, HSPC166, LINC00610

NCBI Gene: 29099 ENSG00000110442 UniProt: Q9P000 OMIM: 612299

COMMD9 encodes a scaffold protein that is essential for endosomal recycling of transmembrane cargos as part of the commander complex, and modulates sodium transport in epithelial cells by regulating amiloride-sensitive sodium channel expression at the cell surface. Mutations in COMMD9 cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and brain atrophy. The disorder presents in infancy with developmental delays, seizures, and progressive brain volume loss affecting multiple neurological systems.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in endocytic recycling. Predicted to act upstream of or within cholesterol homeostasis. Located in nucleoplasm. Part of protein-containing 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

0.68

LOEUF

—

Mechanism