Target：DFNA5

Gene Name：DFNA5

Protein Name：Non-syndromic hearing impairment protein 5

Human Gene Id：1687

Human Swiss Prot No：O60443

Mouse Swiss Prot No：Q9Z2D3

Immunogen：Synthesized peptide derived from DFNA5 . at AA range: 200-280

Specificity：DFNA5 Polyclonal Antibody detects endogenous levels of DFNA5 protein.

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500 - 1:2000. ELISA: 1:40000. Not yet tested in other applications.

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：DFNA5;ICERE1;Non-syndromic hearing impairment protein 5;Inversely correlated with estrogen receptor expression 1;ICERE-1

Observed Band(KD)：54kD

Background： Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008],

Function：disease:Defects in DFNA5 are the cause of non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5) [MIM:600994]. DFNA5 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.,similarity:Belongs to the gasdermin family.,tissue specificity:Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.,

Subcellular Location：[Gasdermin-E, N-terminal]: Cell membrane ; Multi-pass membrane protein .; [Gasdermin-E]: Cytoplasm, cytosol .

Expression：Expressed in cochlea (PubMed:9771715). Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta (PubMed:9771715).