PFN3

Chr 5

profilin 3

Also known as: profilin-3

NCBI Gene: 345456 ENSG00000196570 UniProt: P60673

The protein binds to actin and regulates cytoskeletal structure by slightly reducing actin polymerization, and also binds to various phospholipids and may function in spermatogenesis. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. The gene shows moderate tolerance to loss-of-function variants (pLI 0.50, LOEUF 1.37).

ResearchSummary from RefSeq, UniProt

The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]

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

1.37

LOEUF

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Mechanism

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