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MAP2K1 mitogen-activated protein kinase kinase 1

Gene ID: 5604, updated on 9-Jan-2022
Gene type: protein coding
Also known as: MEL; CFC3; MEK1; MKK1; MAPKK1; PRKMK1

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]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2015-10-13)

ClinGen Genome Curation Page
Triplosensitivity

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:
13

Links

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