LP71445-8
USH2A gene
Active
Description
The USH2A gene (Usher syndrome 2A (autosomal recessive, mild)) [HGNC Gene ID:12601] is located on chromosome 1q41. This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] [NCBI Gene ID:7399] 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
- USH2A gene
- Part Display Name
- USH2A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- USH2A 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) | USH2A 基因 Synonyms: USH2A; |
| et-EE | Estonian (Estonia) | USH2A geen |
| es-ES | Spanish (Spain) | Gen USH2A |
| it-IT | Italian (Italy) | USH2A, gene Synonyms: Gene USH2A |
| tr-TR | Turkish (Turkey) | USH2A geni |
| ru-RU | Russian (Russian Federation) | USH2A ген |
| nl-NL | Dutch (Netherlands) | USH2A-gen Synonyms: USH2A gen |
| fr-FR | French (France) | USH2A gène |
| pl-PL | Polish (Poland) | USH2A gen Synonyms: Gen USH2A |
| el-GR | Greek (Greece) | Γονίδιο USH2A Synonyms: Γονίδιο USH2A |
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://