YWHAZ

Chr 8AD

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta

Also known as: 14-3-3-zeta, HEL-S-3, HEL-S-93, HEL4, KCIP-1, POPCHAS, YWHAD

NCBI Gene: 7534 ENSG00000164924 UniProt: P63104 OMIM: 601288

The encoded protein is a 14-3-3 family adapter protein that regulates diverse signaling pathways by binding to phosphoserine- and phosphothreonine-containing proteins, modulating their activity and subcellular localization. Mutations cause Popov-Chang syndrome with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants, reflecting its essential role in cellular signaling.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

ADLOEUF 0.361 OMIM phenotype

Clinical Summary— YWHAZ

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Gene-Disease Validity (ClinGen)

complex neurodevelopmental disorder · ADModerate

Moderate evidence — consider for supplementary testing

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.

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