KRIT1 KRIT1 ankyrin repeat containing
Gene ID: 889, updated on 5-Mar-2024Gene type: protein coding
Also known as: CAM; CCM1
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- Go to complete Gene record for KRIT1
- Go to Variation Viewer for KRIT1 variants
Summary
This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Associated conditions
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| Description | Tests |
|---|---|
| Cerebral cavernous malformation | See labs |
| Cerebral cavernous malformation 1 MedGen: C1366911GeneReviews: Familial Cerebral Cavernous Malformation | See labs |
Genomic context
- Location:
- 7q21.2
- Sequence:
- Chromosome: 7; NC_000007.14 (92198969..92246100, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KRIT1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KRIT1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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