ACTR3B

Chr 7

actin related protein 3B

Also known as: APR3B, ARP11, ARP3BETA

NCBI Gene: 57180 ENSG00000133627 UniProt: Q9P1U1

The protein encoded by this gene is an ATP-binding component of the Arp2/3 complex that regulates actin polymerization and mediates formation of branched actin networks essential for cell shape and motility. Mutations cause autosomal dominant dystonia with intellectual disability, and the gene is highly constrained against loss-of-function variants. The condition affects the nervous system with movement disorders and cognitive impairment.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

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)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

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Mechanism

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