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Reviewed May 2010
What is the official name of the MKKS gene?
The official name of this gene is “McKusick-Kaufman syndrome.”
MKKS is the gene's official symbol. The MKKS 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 MKKS gene?
The MKKS gene provides instructions for making a protein that plays an important role in the formation of the limbs, heart, and reproductive system. The structure of this protein suggests that it may act as a chaperonin, which is a protein that helps fold other proteins. Proteins must be folded into the correct 3-dimensional shape to perform their usual functions in the body. Abnormally folded proteins can also interfere with the functions of normal proteins.
Although the structure of the MKKS protein is similar to that of a chaperonin, some studies have suggested that protein folding may not be this protein's primary function. Within cells, the MKKS protein is associated with structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules, which are proteins that transport materials in cells and help the cell maintain its shape. Researchers speculate that the MKKS protein may be involved in transporting other proteins within the cell.
How are changes in the MKKS gene related to health conditions?
Genetics Home Reference provides information about Bardet-Biedl syndrome, which is also associated with changes in the MKKS gene.
Where is the MKKS gene located?
Cytogenetic Location: 20p12
Molecular Location on chromosome 20: base pairs 10,404,779 to 10,434,238
The MKKS gene is located on the short (p) arm of chromosome 20 at position 12.
More precisely, the MKKS gene is located from base pair 10,404,779 to base pair 10,434,238 on chromosome 20.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MKKS?
You and your healthcare professional may find the following resources about MKKS 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 MKKS gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 MKKS?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.