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Reviewed November 2012
What is the official name of the KRIT1 gene?
The official name of this gene is “KRIT1, ankyrin repeat containing.”
KRIT1 is the gene's official symbol. The KRIT1 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 KRIT1 gene?
The KRIT1 gene (also known as CCM1) provides instructions for making a protein that strengthens the interactions between cells that form blood vessels and limits leakage from the vessels. The KRIT1 protein interacts with a number of other proteins to form a complex that is found in the junctions that connect neighboring cells. As part of this complex, the KRIT1 protein helps turn off (suppress) a signaling molecule known as RhoA-GTPase. This molecule plays a role in regulating the actin cytoskeleton, which is a network of fibers that makes up the cell's structural framework. When turned on, RhoA-GTPase stimulates the formation of actin fibers, which has been linked to weakened junctions between cells and increased leakage from blood vessels.
How are changes in the KRIT1 gene related to health conditions?
Where is the KRIT1 gene located?
Cytogenetic Location: 7q21.2
Molecular Location on chromosome 7: base pairs 91,828,282 to 91,875,413
The KRIT1 gene is located on the long (q) arm of chromosome 7 at position 21.2.
More precisely, the KRIT1 gene is located from base pair 91,828,282 to base pair 91,875,413 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KRIT1?
You and your healthcare professional may find the following resources about KRIT1 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 KRIT1 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 KRIT1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 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.