LP97943-2
KRIT1 gene
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Description
The KRIT1 gene (KRIT1, ankyrin repeat containing) [HGNC Gene ID:1573] is located on chromosome 7q21.2. 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] [NCBI Gene ID:889] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- KRIT1 gene
- Part Display Name
- KRIT1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-11-18
- Construct for LOINC Short Name
- KRIT1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | KRIT1 基因 Synonyms: CAM; |
| et-EE | Estonian (Estonia) | KRIT1 geen |
| es-ES | Spanish (Spain) | Gen KRIT1 |
| it-IT | Italian (Italy) | KRIT1, gene Synonyms: Gene KRIT1 |
| tr-TR | Turkish (Turkey) | KRIT1 geni |
| ru-RU | Russian (Russian Federation) | KRIT1 ген |
| nl-NL | Dutch (Netherlands) | KRIT1-gen Synonyms: KRIT1 gen |
| fr-FR | French (France) | KRIT1 gène |
| pl-PL | Polish (Poland) | KRIT1 gen Synonyms: Gen KRIT1 |
| el-GR | Greek (Greece) | Γονίδιο KRIT1 Synonyms: Γονίδιο KRIT1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://