MAP2K1 mitogen-activated protein kinase kinase 1
Gene ID: 5604, updated on 17-Jun-2024Gene type: protein coding
Also known as: MEL; CFC3; MEK1; MKK1; MAPKK1; PRKMK1
- See all available tests in GTR for this gene
- Go to complete Gene record for MAP2K1
- Go to Variation Viewer for MAP2K1 variants
Summary
The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cardiofaciocutaneous syndrome 3 | See labs |
| Melorheostosis | See labs |
| Noonan syndrome MedGen: C0028326GeneReviews: Noonan Syndrome | See labs |
| Noonan syndrome 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2015-10-13) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2015-10-13) ClinGen Genome Curation Page |
Genomic context
- Location:
- 15q22.31
- Sequence:
- Chromosome: 15; NC_000015.10 (66386912..66491544)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAP2K1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MAP2K1 @ LOVD
- MedGenRelated information in MedGen
- NSEuroNet database - MAP2K1
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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