CORO7

Chr 16

coronin 7

Also known as: 0610011B16Rik, CRN7, POD1

NCBI Gene: 79585 ENSG00000262246 UniProt: P57737

The protein regulates F-actin to facilitate anterograde transport from the Golgi apparatus to endosomes and helps maintain Golgi morphology. Mutations cause autosomal recessive developmental delay, intellectual disability, seizures, and microcephaly with onset in infancy or early childhood. The gene shows extremely low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.02

LOEUF

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Mechanism

Some data sources returned errors (1)