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HGNC UniGene Nucleotide OMIM UCSC
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FLASH GENE
Symbol SLC26A4 contributors: npt/mct - updated : 15-07-2012
HGNC name solute carrier family 26, member 4
HGNC id 8818
ASSOCIATED DISORDERS
corresponding disease(s) DFNB4 , PDS
related resource Hereditary Hearing Loss Homepage
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
by hypermethylation in benign adenoma of the thyroid or thyroid cancer
constitutional germinal mutation      
associated with nonsyndromic hearing loss in carriers of KCNJ10 mutations with enlarged vestibular aqueduct
constitutional   deletion    
decreases apical Cl(-)/HCO3(-) exchanger activity and impairs bicarbonate secretion in kidney collecting duct
Susceptibility
Variant & Polymorphism
Candidate gene autoantigen recognized by patients with autoimmune thyroid diseases (use of pendrin antibodies is an accurate diagnostic tool)
Marker
Therapy target
SystemTypeDisorderPubmed
respiratorylung 
may be a therapeutic target candidate for bronchial asthma and chronic obstructive pulmonary disease
ANIMAL & CELL MODELS