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KRIT1

KRIT1

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.

Does the KRIT1 gene share characteristics with other genes?

The KRIT1 gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the KRIT1 gene related to health conditions?

cerebral cavernous malformation - caused by mutations in the KRIT1 gene

More than 100 KRIT1 gene mutations have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone to leakage. Virtually all of these mutations place a premature stop signal in the instructions for making the KRIT1 protein, preventing adequate KRIT1 protein production. A shortage of this protein likely impairs the function of the complex. As a result, RhoA-GTPase signaling is turned on abnormally, weakening cellular junctions and increasing the permeability of blood vessel walls. The increased leakage into the brain can cause health problems such as headaches, seizures, and bleeding in the brain (cerebral hemorrhage) in some people with cerebral cavernous malformations.

Mutations in the KRIT1 gene account for up to 50 percent of all familial cerebral cavernous malformation cases. One particular mutation is responsible for up to 70 percent of cases in people of Hispanic heritage. This mutation changes a single DNA building block (nucleotide) at position 1363 in the KRIT1 gene, written as 1363C>T.

Where is the KRIT1 gene located?

Cytogenetic Location: 7q21.2

Molecular Location on chromosome 7: base pairs 92,198,968 to 92,246,127

The KRIT1 gene is located on the long (q) arm of chromosome 7 at position 21.2.

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 92,198,968 to base pair 92,246,127 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?

  • 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?

actin ; cavernous ; cell ; cerebral hemorrhage ; cytoskeleton ; DNA ; familial ; gene ; hemorrhage ; malformation ; molecule ; mutation ; nucleotide ; permeability ; protein

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.

 
Reviewed: November 2012
Published: November 17, 2014