YWHAZ Chromosome 8
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
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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 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]
Gene Info
Gene Group
14-3-3 phospho-serine/phospho-threonine binding proteins
Locus Type
gene with protein product
Location
8q22.3
Ensembl
ENSG00000164924
Associated Conditions (4)
See cases
YWHAZ-related neurodevelopmental syndrome
Noonan-like disorder
Popov-Chang syndrome
Key Variants
RS1554612377
Conflicting classifications of pathogenicity
See cases, YWHAZ-related neurodevelopmental syndrome, Noonan-like disorder
Health Risk
RS1563665760
Pathogenic
Popov-Chang syndrome, Popov-Chang syndrome
Health Risk
RS754522887
Pathogenic
Popov-Chang syndrome, Popov-Chang syndrome
Health Risk
RS775309705
Pathogenic
Popov-Chang syndrome, Popov-Chang syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554612377 | Health Risk | Conflicting classifications of pathogenicity | See cases, YWHAZ-related neurodevelopmental syndrome, Noonan-like disorder |
| RS1563665760 | Health Risk | Pathogenic | Popov-Chang syndrome, Popov-Chang syndrome |
| RS754522887 | Health Risk | Pathogenic | Popov-Chang syndrome, Popov-Chang syndrome |
| RS775309705 | Health Risk | Pathogenic | Popov-Chang syndrome, Popov-Chang syndrome |