Immunological Sciences

DFNA5 Rabbit Polyclonal Antibody

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Catalog Number:ABN09934
Conjugate:Unconjugated
Size:100μL
Concentration:1mg/ml
Host:Rabbit
Isotype:IgG
Clone:Polyclonal
Immunogen:Synthesized peptide derived from DFNA5 . at AA range: 200-280
Reactivity:Human,Rat
Applications:WB 1:500-1:2000,ELISA 1:20000-1:40000
Molecular Weight:54kDa
Purification:Affinity purification
Form:Liquid
Synonyms:DFNA5; ICERE1; Non-syndromic hearing impairment protein 5; Inversely correlated with estrogen receptor expression 1; ICERE-1

Applications

WB 1:500-1:2000,ELISA 1:20000-1:40000

Immunogen

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

Target 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],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.,

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

Storage

Store at 4°C short term. Aliquot and store at -20°C for 12 months. Avoid freeze/thaw cycles.

Buffer

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.

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