PHYHIP

Chr 8

phytanoyl-CoA 2-hydroxylase interacting protein

Also known as: DYRK1AP3, PAHX-AP, PAHXAP1

NCBI Gene: 9796 ENSG00000168490 UniProt: Q92561

The PHYHIP protein enables protein tyrosine kinase binding and is involved in protein localization within the cytoplasm, with its interaction with PHYH suggesting a role in central nervous system development. This gene is highly constrained against loss-of-function variants (pLI 0.86, LOEUF 0.44), indicating that mutations are likely to cause significant developmental effects. However, specific disease associations and inheritance patterns for PHYHIP mutations have not yet been established in the clinical literature.

ResearchSummary from RefSeq, UniProt

Enables protein tyrosine kinase binding activity. Involved in protein localization. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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