PIANP

Chr 12

PILR alpha associated neural protein

Also known as: C12orf53, LEDA1, PANP, leda-1

NCBI Gene: 196500 ENSG00000139200 UniProt: Q8IYJ0 OMIM: 616065

PIANP encodes a ligand for the paired immunoglobulin-like type 2 receptor alpha that functions in neural immune regulation. Mutations cause neurodevelopmental disorder with progressive microcephaly, spasticity, and brain atrophy, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011]

OMIM 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

0.58

LOEUF

GOF

Mechanism· predicted