ERICH3

Chr 1

glutamate rich 3

Also known as: C1orf173

NCBI Gene: 127254 ENSG00000178965 UniProt: Q5RHP9 OMIM: 620866

ERICH3 encodes a protein that controls primary cilium formation and length, and is also involved in neuronal vesicle biogenesis and neurotransmitter vesicular function. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and movement abnormalities. The gene shows tolerance to loss-of-function variation, consistent with a recessive inheritance pattern affecting ciliary and neuronal functions.

OMIM ResearchSummary from RefSeq, UniProt

Involved in cilium assembly. Located in axoneme and non-motile cilium. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.36

LOEUF

Multiple*