Anti-DFNA5 monoclonal antibody (DCABH-11260) Made to order

Rabbit anti-Human DFNA5 monoclonal antibody for WB, ELISA

View other DFNA5 antibodies

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human DFNA5 is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
DFNA5; deafness, autosomal dominant 5; non-syndromic hearing impairment protein 5; ICERE 1; nonsyndromic hearing impairment protein; inversely correlated with estrogen receptor expression 1
Entrez Gene ID
UniProt ID

Product Background


Gene summary
DFNA5 (DFNA5, Deafness Associated Tumor Suppressor) is a Protein Coding gene. Diseases associated with DFNA5 include deafness, autosomal dominant 5 and dfna 5 nonsyndromic hearing loss and deafness. An important paralog of this gene is DFNB59. 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.
Antigen Description
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. Deafness, autosomal dominant, 5 (DFNA5) [MIM:600994]: A form of non-syndromic 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Is a tumor suppressor gene with an important role in colorectal cancer (CRC). Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene.

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References


Carl-Mcgrath, S; Schneider-Stock, R; et al. Differential expression and localisation of gasdermin-like (GSDML), a novel member of the cancer-associated GSDMDC protein family, in neoplastic and non-neoplastic gastric, hepatic, and colon tissues. PATHOLOGY 40:13-24(2008).

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