LP35578-1

SLC26A4 gene

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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 Name: SLC26A4 gene
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

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:8818	SLC26A4
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	5172	SLC26A4

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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
fr-FR	French (France)	SLC26A4 gène
el-GR	Greek (Greece)	Γονίδιο SLC26A4 Synonyms: Γονίδιο SLC26A4

LOINC Copyright

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