产品名称
DFNA5 Rabbit Polyclonal Antibody
别名
DFNA5; ICERE1; Non-syndromic hearing impairment protein 5; Inversely correlated with estrogen receptor expression 1; ICERE-1
蛋白名称
Non-syndromic hearing impairment protein 5
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1687
Human Swissprot No.
O60443
Human Swissprot Link
http://www.uniprot.org/uniprotkb/O60443/entry
Mouse Swissprot No.
Q9Z2D3
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9Z2D3
免疫原
Synthesized peptide derived from DFNA5 . at AA range: 200-280
特异性
DFNA5 Polyclonal Antibody detects endogenous levels of DFNA5 protein.
稀释度
WB 1:500 - 1:2000. ELISA: 1:40000. Not yet tested in other applications.
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
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).
细胞定位
[Gasdermin-E, N-terminal]: Cell membrane ; Multi-pass membrane protein .; [Gasdermin-E]: Cytoplasm, cytosol .
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
