KT182

KRIT1
Identifiers
Symbol	?
NCBI gene	889
HGNC	2894
OMIM	604214
RefSeq	NM_194456
UniProt	Q6V1X1
Search for Structures Swiss-model Domains InterPro

KRIT1 (Krev interaction trapped 1) is a protein encoded by the KRIT1 gene in humans. It is a crucial component in the maintenance of vascular integrity and is associated with the pathogenesis of cerebral cavernous malformations (CCM), a condition characterized by abnormally enlarged capillary cavities in the brain that can lead to seizures, neurological deficits, and hemorrhagic stroke.

Structure

The KRIT1 protein contains several important domains, including:

• A N-terminal FERM domain, which is involved in linking the cytoskeleton to the plasma membrane.
• Ankyrin repeats, which are known for mediating protein-protein interactions.
• A C-terminal domain that interacts with other CCM proteins, such as CCM2 and PDCD10.

Function

KRIT1 plays a significant role in the regulation of endothelial cell junctions and vascular stability. It is involved in:

• Maintaining the integrity of the blood-brain barrier.
• Modulating RhoA signaling pathways, which are crucial for cytoskeletal dynamics and cell adhesion.
• Interacting with ICAP1, a protein that influences integrin signaling and cell adhesion.

Clinical Significance

Mutations in the KRIT1 gene are a major cause of familial cerebral cavernous malformations (CCM1). These mutations lead to the loss of function of the KRIT1 protein, resulting in the destabilization of endothelial cell junctions and the formation of vascular lesions.

Diagnosis

Diagnosis of CCM1 is typically confirmed through genetic testing for mutations in the KRIT1 gene. Imaging techniques such as MRI are used to visualize the characteristic lesions in the brain.

Treatment

Currently, there is no specific treatment for CCM1. Management focuses on symptomatic relief and prevention of complications, such as surgical removal of accessible lesions to prevent hemorrhage.

Research Directions

Ongoing research is focused on understanding the molecular mechanisms by which KRIT1 mutations lead to CCM and exploring potential therapeutic targets to restore vascular integrity.

Also see

• Cerebral cavernous malformation
• CCM2
• PDCD10
• Endothelial cell
• Blood-brain barrier

Resources

Latest articles - KT182

• Most recent articles
• Ongoing trials

Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on KT182 for any updates.

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