YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
Gene ID: 7532, updated on 11-Apr-2024Gene type: protein coding
Also known as: DEE56; EIEE56; PPP1R170; 14-3-3GAMMA
- See all available tests in GTR for this gene
- Go to complete Gene record for YWHAG
- Go to Variation Viewer for YWHAG variants
Summary
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 rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy, 56 | See labs |
| Genome-wide association study of severity in multiple sclerosis. GeneReviews: Not available |
Genomic context
- Location:
- 7q11.23
- Sequence:
- Chromosome: 7; NC_000007.14 (76326799..76358991, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for YWHAG variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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