LP63482-1
EYA1 gene
Active
Description
The EYA1 gene (EYA transcriptional coactivator and phosphatase 1) [HGNC Gene ID:3519] is located on chromosome 8q13.3. This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013] [NCBI Gene ID:2138] 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
- EYA1 gene
- Part Display Name
- EYA1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-04-19
- Construct for LOINC Short Name
- EYA1 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) | EYA1 基因 Synonyms: BOP; |
| et-EE | Estonian (Estonia) | EYA1 geen |
| es-ES | Spanish (Spain) | Gen EYA1 |
| it-IT | Italian (Italy) | EYA1, gene Synonyms: Gene EYA1 |
| tr-TR | Turkish (Turkey) | EYA1 geni |
| ru-RU | Russian (Russian Federation) | EYA1 ген |
| nl-NL | Dutch (Netherlands) | EYA1-gen Synonyms: EYA1 gen |
| fr-FR | French (France) | EYA1 gène |
| pl-PL | Polish (Poland) | EYA1 gen Synonyms: Gen EYA1 |
| el-GR | Greek (Greece) | Γονίδιο EYA1 Synonyms: Γονίδιο EYA1 |
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://