LP35580-7
WFS1 gene
Active
Description
The WFS1 gene (Wolfram syndrome 1 (wolframin)) [HGNC Gene ID:12762] is located on chromosome 4p16.1. This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] [NCBI Gene ID:7466] 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
- WFS1 gene
- Part Display Name
- WFS1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-03-30
- Construct for LOINC Short Name
- WFS1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP35580-7 - ConceptMap translate
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//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP35580-7
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | WFS1 基因 Synonyms: DFNA14; |
| et-EE | Estonian (Estonia) | WFS1 geen |
| es-ES | Spanish (Spain) | Gen WFS1 |
| it-IT | Italian (Italy) | WFS1, gene Synonyms: Gene WFS1 |
| tr-TR | Turkish (Turkey) | WFS1 geni |
| ru-RU | Russian (Russian Federation) | WFS1 ген |
| nl-NL | Dutch (Netherlands) | WFS1-gen Synonyms: WFS1 gen |
LOINC Copyright
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