PAXIP1

Chr 7

PAX interacting protein 1

Also known as: CAGF28, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2

NCBI Gene: 22976 ENSG00000157212 UniProt: Q6ZW49 OMIM: 608254

The protein functions in DNA damage response and repair, maintaining genome stability, and regulating transcription through histone methyltransferase complexes. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and various congenital anomalies. This gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.099), indicating that heterozygous variants can cause disease.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]

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

0.10

LOEUF· LoF intol.

LOF

Mechanism· predicted