CTTNBP2

Chr 7

cortactin binding protein 2

Also known as: C7orf8, CORTBP2, Orf4

NCBI Gene: 83992 ENSG00000077063 UniProt: Q8WZ74

This protein regulates dendritic spine distribution and maintenance in hippocampal neurons by controlling cortactin localization and associating with the STRIPAK complex. Mutations cause autosomal recessive intellectual disability, often with autism spectrum disorder and seizures. The gene is moderately constrained against loss-of-function variants, with neurological symptoms typically apparent in early childhood.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429