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Genetics Home Reference: your guide to understanding genetic conditions
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KRIT1

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?

cerebral cavernous malformation - caused by mutations in the KRIT1 gene

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: 7q21.2

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about KRIT1?

You and your healthcare professional may find the following resources about KRIT1 helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ccm)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/156867)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((CCM1%5BTIAB%5D)%20OR%20(cerebral%20cavernous%20malformations%201%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/604214)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_KRIT1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/889)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=889)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=1573)

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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 (http://ghr.nlm.nih.gov/glossary).

References

  • Cavé-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. Eur J Hum Genet. 2002 Nov;10(11):733-40. (http://www.ncbi.nlm.nih.gov/pubmed/12404106?dopt=Abstract)
  • Eerola I, McIntyre B, Vikkula M. Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. Biochim Biophys Acta. 2001 Feb 16;1517(3):464-7. (http://www.ncbi.nlm.nih.gov/pubmed/11342228?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/889)
  • Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10677-82. Epub 2002 Jul 24. (http://www.ncbi.nlm.nih.gov/pubmed/12140362?dopt=Abstract)
  • Guzeloglu-Kayisli O, Kayisli UA, Amankulor NM, Voorhees JR, Gokce O, DiLuna ML, Laurans MS, Luleci G, Gunel M. Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis. J Neurosurg. 2004 May;100(5 Suppl Pediatrics):481-7. (http://www.ncbi.nlm.nih.gov/pubmed/15287459?dopt=Abstract)
  • Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet. 1999 Oct;23(2):189-93. (http://www.ncbi.nlm.nih.gov/pubmed/10508515?dopt=Abstract)
  • Marini V, Ferrera L, Pigatto F, Origone P, Garrè C, Dorcaratto A, Viale G, Alberti F, Mareni C. Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients. Am J Med Genet A. 2004 Sep 15;130A(1):98-101. (http://www.ncbi.nlm.nih.gov/pubmed/15368504?dopt=Abstract)
  • OMIM: KREV INTERACTION TRAPPED 1 (http://omim.org/entry/604214)
  • Plummer NW, Zawistowski JS, Marchuk DA. Genetics of cerebral cavernous malformations. Curr Neurol Neurosci Rep. 2005 Sep;5(5):391-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16131422?dopt=Abstract)
  • Sahoo T, Goenaga-Diaz E, Serebriiskii IG, Thomas JW, Kotova E, Cuellar JG, Peloquin JM, Golemis E, Beitinjaneh F, Green ED, Johnson EW, Marchuk DA. Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. Genomics. 2001 Jan 1;71(1):123-6. (http://www.ncbi.nlm.nih.gov/pubmed/11161805?dopt=Abstract)
  • Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. CCM2 expression parallels that of CCM1. Stroke. 2006 Feb;37(2):518-23. Epub 2005 Dec 22. (http://www.ncbi.nlm.nih.gov/pubmed/16373645?dopt=Abstract)
  • Verlaan DJ, Davenport WJ, Stefan H, Sure U, Siegel AM, Rouleau GA. Cerebral cavernous malformations: mutations in Krit1. Neurology. 2002 Mar 26;58(6):853-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11914398?dopt=Abstract)
  • Verlaan DJ, Laurent SB, Sure U, Bertalanffy H, Andermann E, Andermann F, Rouleau GA, Siegel AM. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Neurology. 2004 Apr 13;62(7):1213-5. (http://www.ncbi.nlm.nih.gov/pubmed/15079030?dopt=Abstract)
  • Whitehead KJ, Plummer NW, Adams JA, Marchuk DA, Li DY. Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development. 2004 Mar;131(6):1437-48. (http://www.ncbi.nlm.nih.gov/pubmed/14993192?dopt=Abstract)
  • Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA. CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet. 2005 Sep 1;14(17):2521-31. Epub 2005 Jul 21. (http://www.ncbi.nlm.nih.gov/pubmed/16037064?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2006
Published: May 21, 2012