LP71164-5
WS2A gene
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Description
The WS2A (microphthalmia-associated transcription factor) gene [NCBI Gene ID:4286] is located on chromosome 3p14.2-p14.1. This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 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
- WS2A gene
- Part Display Name
- WS2A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-09-19
- Construct for LOINC Short Name
- WS2A 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) | WS2A 基因 Synonyms: Waardenburg syndrome, type 2A; |
| et-EE | Estonian (Estonia) | WS2A geen |
| es-ES | Spanish (Spain) | Gen WSA2A |
| it-IT | Italian (Italy) | WS2A, gene Synonyms: Gene WS2A |
| tr-TR | Turkish (Turkey) | WS2A geni |
| ru-RU | Russian (Russian Federation) | WS2A ген |
| nl-NL | Dutch (Netherlands) | WS2A-gen Synonyms: WS2A gen |
| fr-FR | French (France) | WS2A gène |
| pl-PL | Polish (Poland) | WS2A gen Synonyms: Gen WS2A |
| el-GR | Greek (Greece) | Γονίδιο WS2A Synonyms: Γονίδιο WS2A |
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://