POC1A

Chr 3

POC1 centriolar protein A

Also known as: PIX2, SOFT, WDR51A

NCBI Gene: 25886 ENSG00000164087 UniProt: Q8NBT0

The POC1A protein is essential for centriole assembly and stability, and plays a critical role in ciliogenesis and proper mitotic spindle formation. Biallelic mutations cause short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants, reflecting its essential cellular functions.

ResearchSummary from RefSeq, OMIM, UniProt

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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