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MAP2K1

MAP2K1

Reviewed May 2012

What is the official name of the MAP2K1 gene?

The official name of this gene is “mitogen-activated protein kinase kinase 1.”

MAP2K1 is the gene's official symbol. The MAP2K1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MAP2K1 gene?

The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. This protein is part of a signaling pathway called the RAS/MAPK pathway, which transmits chemical signals from outside the cell to the cell's nucleus. RAS/MAPK signaling helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).

The MAP2K1 gene is very similar to a gene called MAP2K2, which provides instructions for making a protein known as MEK2 protein kinase. Like MEK1 protein kinase, this protein functions as part of the RAS/MAPK signaling pathway. Together, the MEK1 and MEK2 protein kinases appear to be essential for normal development before birth and for survival after birth.

How are changes in the MAP2K1 gene related to health conditions?

cardiofaciocutaneous syndrome - caused by mutations in the MAP2K1 gene

At least nine mutations in the MAP2K1 gene have been identified in people with cardiofaciocutaneous syndrome. Each of these mutations changes a single protein building block (amino acid) in MEK1 protein kinase. These genetic changes abnormally activate the protein, which disrupts the tightly regulated RAS/MAPK signaling pathway in cells throughout the body. The altered signaling interferes with the normal development of many organs and tissues, resulting in the characteristic features of cardiofaciocutaneous syndrome.

Where is the MAP2K1 gene located?

Cytogenetic Location: 15q22.1-q22.33

Molecular Location on chromosome 15: base pairs 66,386,872 to 66,491,543

The MAP2K1 gene is located on the long (q) arm of chromosome 15 between positions 22.1 and 22.33.

The MAP2K1 gene is located on the long (q) arm of chromosome 15 between positions 22.1 and 22.33.

More precisely, the MAP2K1 gene is located from base pair 66,386,872 to base pair 66,491,543 on chromosome 15.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MAP2K1?

You and your healthcare professional may find the following resources about MAP2K1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MAP2K1 gene or gene products?

  • Dual Specificity Mitogen-Activated Protein Kinase Kinase 1
  • ERK Activator Kinase 1
  • MAPK/ERK kinase 1
  • MAP Kinase Kinase 1
  • MAPKK1
  • MEK1
  • MEK-1
  • MEK-1 Protein Kinase
  • MKK1
  • MKK1 Protein Kinase
  • MKK-1 Protein Kinase
  • MP2K1_HUMAN
  • PRKMK1
  • protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MAP2K1?

amino acid ; apoptosis ; cell ; differentiation ; gene ; kinase ; nucleus ; proliferation ; protein ; RAS ; specificity ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: May 2012
Published: March 23, 2015