Version 2.77

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

Basic Part Properties

Part Display Name
Fetal chromosome region 4p16
Part Type
Component (Describes the core component or analyte measured)
Created On
2019-05-14
Construct for LOINC Short Name
Chr 4p16

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP345005-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 胎儿染色体区域 4p16
Synonyms: 胎儿染色体区域(染色体部位、染色体区、染色体区带、染色体部) 4p16
it-IT Italian (Italy) Regione cromosomica 4p16
es-ES Spanish (Spain) Región 4p16 del cromosoma fetal
pl-PL Polish (Poland) Region chromosomowy 4p16 u płodu