KRIT1 Chromosome 7
KRIT1 ankyrin repeat containing
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What This Gene Does
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]
Gene Info
Gene Group
"Ankyrin repeat domain containing|FERM domain containing|MicroRNA protein coding host genes|CCM adhesion complex"
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000001631
Associated Conditions (11)
Cerebral cavernous malformation
KRIT1-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Sarcoma
Ovarian serous cystadenocarcinoma
Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation 1
Cavernous hemangioma
Hereditary cavernous hemangioma of brain
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
Key Variants
RS1057521140
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, KRIT1-related disorder, Cerebral cavernous malformation
Health Risk
RS138763545
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Inborn genetic diseases, KRIT1-related disorder
Health Risk
RS140396626
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation
Health Risk
RS140952803
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation
Health Risk
RS141514714
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebral cavernous malformation, KRIT1-related disorder
Health Risk
RS143644029
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation
Health Risk
RS146328341
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebral cavernous malformation, Inborn genetic diseases
Health Risk
RS147568834
Conflicting classifications of pathogenicity
Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas
Health Risk
RS150912644
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, Inborn genetic diseases
Health Risk
RS1563243075
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Cerebral cavernous malformation
Health Risk
RS182763805
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, Inborn genetic diseases
Health Risk
RS199905288
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebral cavernous malformation, Inborn genetic diseases
Health Risk
All Variants (296)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057521140 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, KRIT1-related disorder, Cerebral cavernous malformation |
| RS138763545 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Inborn genetic diseases, KRIT1-related disorder |
| RS140396626 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation |
| RS140952803 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation |
| RS141514714 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cerebral cavernous malformation, KRIT1-related disorder |
| RS143644029 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation |
| RS146328341 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cerebral cavernous malformation, Inborn genetic diseases |
| RS147568834 | Health Risk | Conflicting classifications of pathogenicity | Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas |
| RS150912644 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, Inborn genetic diseases |
| RS1563243075 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Cerebral cavernous malformation |
| RS182763805 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, Inborn genetic diseases |
| RS199905288 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cerebral cavernous malformation, Inborn genetic diseases |
| RS201877439 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation |
| RS202120786 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Cerebral cavernous malformation |
| RS369227523 | Health Risk | Conflicting classifications of pathogenicity | Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas |
| RS369915828 | Health Risk | Conflicting classifications of pathogenicity | Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, KRIT1-related disorder |
| RS370360812 | Health Risk | Conflicting classifications of pathogenicity | Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, Inborn genetic diseases |
| RS370766145 | Health Risk | Conflicting classifications of pathogenicity | Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, KRIT1-related disorder |
| RS372125478 | Health Risk | Conflicting classifications of pathogenicity | Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas |
| RS376805857 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation |
| RS527439925 | Health Risk | Conflicting classifications of pathogenicity | Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas |
| RS533696377 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation |
| RS543954194 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, KRIT1-related disorder, Cerebral cavernous malformation |
| RS572414111 | Health Risk | Conflicting classifications of pathogenicity | Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, KRIT1-related disorder |
| RS756158170 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cerebral cavernous malformation, Inborn genetic diseases |
| RS775375977 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation, Cerebral cavernous malformation |
| RS137853139 | Health Risk | Likely pathogenic | Cerebral cavernous malformation 1, Cerebral cavernous malformation, Cerebral cavernous malformation 1 |
| RS1462431994 | Health Risk | Likely pathogenic | KRIT1-related disorder, KRIT1-related disorder |
| RS1468613071 | Health Risk | Likely pathogenic | Cerebral cavernous malformation, Cerebral cavernous malformation |
| RS1554489785 | Health Risk | Likely pathogenic | Cerebral cavernous malformation, Cerebral cavernous malformation |
| RS1554512816 | Health Risk | Likely pathogenic | — |
| RS1554518369 | Health Risk | Likely pathogenic | — |
| RS1554518790 | Health Risk | Likely pathogenic | Cavernous hemangioma, Cavernous hemangioma |
| RS1554527919 | Health Risk | Likely pathogenic | — |
| RS1563211361 | Health Risk | Likely pathogenic | — |
| RS1563211839 | Health Risk | Likely pathogenic | — |
| RS1563240821 | Health Risk | Likely pathogenic | — |
| RS1563242899 | Health Risk | Likely pathogenic | — |
| RS1563245191 | Health Risk | Likely pathogenic | — |
| RS1563263545 | Health Risk | Likely pathogenic | — |
| RS1563263604 | Health Risk | Likely pathogenic | — |
| RS1563264033 | Health Risk | Likely pathogenic | — |
| RS1563265838 | Health Risk | Likely pathogenic | — |
| RS1563266256 | Health Risk | Likely pathogenic | — |
| RS1563266277 | Health Risk | Likely pathogenic | — |
| RS1563266994 | Health Risk | Likely pathogenic | — |
| RS1563275284 | Health Risk | Likely pathogenic | — |
| RS1563301527 | Health Risk | Likely pathogenic | — |
| RS1563301954 | Health Risk | Likely pathogenic | Cerebral cavernous malformation, Cerebral cavernous malformation |
| RS1563303222 | Health Risk | Likely pathogenic | — |