Version 2.78

Description

The SLC26A4 gene (solute carrier family 26 (anion exchanger), member 4) [HGNC Gene ID:8818] is located on chromosome 7q31. Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5172] 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 Display Name
SLC26A4 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-30
Construct for LOINC Short Name
SLC26A4 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35578-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35578-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SLC26A4 基因
Synonyms: DFNB4;EVA;NSRD4;PDS;Pendred 综合征;Pendred 综合征三联征（先天性感觉神经性耳聋、甲状腺肿和高氯酸盐试验阳性）;Pendrin (钠依赖性氯/碘转运蛋白);Pendrin 碘/氯转运蛋白;Pendrin 蛋白;先天性耳聋伴甲状腺肿;大前庭水管综合征;常染色体隐性遗传性耳聋;溶质转运蛋白家族 26, 成员 4;潘德雷德综合征;耳聋, 常染色体隐性 4
et-EE Estonian (Estonia) SLC26A4 geen
es-ES Spanish (Spain) Gen SLC26A4
it-IT Italian (Italy) SLC26A4, gene
Synonyms: Gene SLC26A4
tr-TR Turkish (Turkey) SLC26A4 geni
ru-RU Russian (Russian Federation) SLC26A4 ген
nl-NL Dutch (Netherlands) SLC26A4-gen
Synonyms: SLC26A4 gen