YWHAE Chromosome 17
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
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What This Gene Does
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 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
14-3-3 phospho-serine/phospho-threonine binding proteins
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000108953
Associated Conditions (1)
YWHAE-associated disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543550682 | Health Risk | Likely pathogenic | YWHAE-associated disorder, YWHAE-associated disorder |