Krev interaction trapped protein 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''CCM1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene contains 16 coding exons and is located on chromosome 7q21.2. Loss of function mutations in ''CCM1'' result in the onset of
Cerebral cavernous malformation
Cavernous hemangioma, also called cavernous angioma, venous malformation, or cavernoma, is a type of venous malformation due to endothelial dysmorphogenesis from a lesion which is present at birth. A cavernoma in the brain is called a cerebral c ...
.
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
Interactions
The normal CCM1 protein, KRIT1 (Krev Interaction Trapped), is 736 amino acids in length and has a variety of functions. KRIT1 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizat ...
with multiple signaling pathways including;
ITGB1BP1
Integrin beta-1-binding protein 1 is a protein that in humans is encoded by the ''ITGB1BP1'' gene.
The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domai ...
.,
reactive oxygen species, cell death, and angiogenesis. Related to the CCM illness, this protein is required for maintaining the structural integrity of the vasculature.
References
Further reading
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{{Cytoskeletal proteins