YWHAH

Chr 22

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

Also known as: YWHA1

NCBI Gene: 7533 ENSG00000128245 UniProt: Q04917

The YWHAH protein is a 14-3-3 adapter protein that regulates signaling pathways by binding to phosphoserine-containing proteins and modulating their activity. Mutations cause developmental and epileptic encephalopathy with early-onset seizures and intellectual disability, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants (LOEUF 0.504), reflecting its critical role in neurodevelopment.

ResearchSummary from RefSeq, 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 bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (2)

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