domingo, 5 de abril de 2015

MAP3K1 - mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase - Genetics Home Reference

MAP3K1 - mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions

MAP3K1

What is the official name of the MAP3K1 gene?

The official name of this gene is “mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase.”
MAP3K1 is the gene's official symbol. The MAP3K1 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 MAP3K1 gene?

The MAP3K1 gene provides instructions for making a protein that helps regulate signaling pathways that control various processes in the body, including the processes of determining sexual characteristics before birth. The MAP3K1 protein attaches (binds) to other molecules called RHOA, MAP3K4, FRAT1, and AXIN1. The binding of MAP3K1 to these molecules, which are called cofactors, helps MAP3K1 control the activity of the signaling pathways.

How are changes in the MAP3K1 gene related to health conditions?


Swyer syndrome - caused by mutations in the MAP3K1 gene
Mutations in the MAP3K1 gene are thought to account for up to 18 percent of cases of Swyer syndrome, a condition affecting sexual development also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis.
People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype).
The MAP3K1 gene mutations that cause Swyer syndrome increase cofactor binding, which decreases signaling that leads to male sexual differentiation and enhances signaling that leads to female sexual differentiation. As a result, affected individuals with a typically male 46,XY karyotype will not develop male gonads (testes) but will develop female reproductive structures (a uterus and fallopian tubes).
other disorders - caused by mutations in the MAP3K1 gene
MAP3K1 gene mutations have also been identified in people with 46,XY disorder of sex development, which is also known as partial gonadal dysgenesis. These mutations likely have similar but less pronounced effects on signaling related to sexual development than those that cause Swyer syndrome (described above). Affected individuals may have external genitalia that do not look clearly male or clearly female (ambiguous genitalia) or other abnormalities of the genitals and reproductive organs.
Genetics Home Reference provides information about breast cancer, which is also associated with changes in the MAP3K1 gene.

Where is the MAP3K1 gene located?

Cytogenetic Location: 5q11.2
Molecular Location on chromosome 5: base pairs 56,815,072 to 56,896,151
The MAP3K1 gene is located on the long (q) arm of chromosome 5 at position 11.2.
The MAP3K1 gene is located on the long (q) arm of chromosome 5 at position 11.2.
More precisely, the MAP3K1 gene is located from base pair 56,815,072 to base pair 56,896,151 on chromosome 5.

Where can I find additional information about MAP3K1?

You and your healthcare professional may find the following resources about MAP3K1 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 MAP3K1 gene or gene products?

  • M3K1_HUMAN
  • MAP/ERK kinase kinase 1
  • MAPK/ERK kinase kinase 1
  • MAPKKK1
  • MEKK
  • MEKK1
  • MEKK 1
  • MEK kinase 1
  • mitogen-activated protein kinase kinase kinase 1
  • SRXY6

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 MAP3K1?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (6 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

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