Home
>
Product
>
Antibody
>
Rabbit Anti-DFNA5/FITC Conjugated antibody
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.
|
|