Home > Product > Antibody > Rabbit Anti-DFNA5/FITC Conjugated antibody
2310037D07Rik; 4932441K13Rik; Deafness, autosomal dominant 5; Deafness, autosomal dominant 5 protein; DFNA5; DFNA5 gene; DFNA5_HUMAN; Dfna5h; EG14210; Fin15; ICERE 1; ICERE-1; Inversely correlated with estrogen receptor expression 1; Non-syndromic hearing
Cat:
SL14286R-FITC
Species Reactivity:
Rat,(predicted: Human,Mouse,Dog,Cow,Sheep,)
Immunogen:
KLH conjugated synthetic peptide derived from human DFNA5
Format:
Lyophilized or Liquid
Storage instructions:
Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant
Buffer:
0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
Calculated MW:
54kDa
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Unit:
Price: $
Product PDFs
Datasheet:


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]

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.

DISEASE:
Defects in DFNA5 are the cause of 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.

Database links:

Entrez Gene: 1687 Human

Entrez Gene: 54722 Mouse

Entrez Gene: 353316 Rat

Omim: 608798 Human

SwissProt: O60443 Human

SwissProt: Q9Z2D3 Mouse

Unigene: 520708 Human

Unigene: 248361 Mouse

Unigene: 96433 Rat



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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