Reviewed November 2006
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.
What is the normal function of the KRIT1 gene?
The KRIT1 gene (also known as the CCM1 gene) provides instructions for making a protein that likely plays an important role in the formation of blood vessels, especially capillaries, during the development of an embryo. While the exact function of the KRIT1 protein is not clearly understood, studies suggest that it influences the movement and structure of cells during the development of blood vessels. The KRIT1 protein may also be involved in creating the boundary between the walls of capillaries and the surrounding tissue in the brain, called the blood-brain barrier. This barrier protects the brain's delicate nerve tissue by preventing many types of molecules from entering the brain. Research suggests that the KRIT1 protein may also help maintain the structure and function of blood vessels after they have formed.
How are changes in the KRIT1 gene related to health conditions?
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cerebral cavernous malformation - caused by mutations in the KRIT1 gene
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More than 100 mutations that cause cerebral cavernous malformations have been identified in the KRIT1 gene. Virtually all of these mutations place a premature stop signal in the instructions for making the KRIT1 protein, preventing adequate KRIT1 protein production. Without enough KRIT1 protein, blood vessels do not form properly and cavernous malformations can develop.
Mutations in the KRIT1 gene may account for up to 40 percent of all familial cerebral cavernous malformation cases. One particular mutation is responsible for up to 70 percent of cerebral cavernous malformation cases in people of Hispanic heritage. This mutation replaces one DNA building block (nucleotide base) with a different base at position 1363 in the KRIT1 gene, written as 1363C>T.
Where is the KRIT1 gene located?
Cytogenetic Location: 7q21-q22
Molecular Location on chromosome 7: base pairs 91,666,218 to 91,713,349
The KRIT1 gene is located on the long (q) arm of chromosome 7 between positions 21 and 22.
More precisely, the KRIT1 gene is located from base pair 91,666,218 to base pair 91,713,349 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.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the KRIT1 gene or gene products?
- ankyrin repeat-containing protein Krit1
- CAM
- CCM1
- cerebral cavernous malformations 1
- krev interaction trapped 1
- KRIT1_HUMAN
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?
blood-brain barrier ;
CAMs ;
capillaries ;
cavernous ;
cell ;
DNA ;
embryo ;
familial ;
gene ;
malformation ;
molecule ;
mutation ;
nucleotide ;
protein ;
tissue
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.