FRMD4A

Chr 10AR

FERM domain containing 4A

Also known as: CCAFCA, FRMD4, bA295P9.4

NCBI Gene: 55691 ENSG00000151474 UniProt: Q9P2Q2 OMIM: 616305

The protein regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex and may regulate MAPT secretion. Autosomal recessive mutations cause agenesis of the corpus callosum with facial anomalies and cerebellar ataxia. This gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.135), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxiaMIM #616819

UniProtAgenesis of the corpus callosum, with facial anomalies and cerebellar ataxia

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)

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P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

LOF

Mechanism· predicted