Molecular weight (DA)
54kD
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.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/40000. Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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.,
Protein name
Non-syndromic hearing impairment protein 5
Other name
DFNA5; ICERE1; Non-syndromic hearing impairment protein 5; Inversely correlated with estrogen receptor expression 1; ICERE-1
Human protein sequence Database
O60443
Mouse protein sequence database
Q9Z2D3
Rat protein sequence database
Cellular localization
[Gasdermin-E, N-terminal]: Cell membrane ; Multi-pass membrane protein .; [Gasdermin-E]: Cytoplasm, cytosol .
Tissue 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).
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