Molecular weight (DA)
38kD
Immunogen
Synthesized peptide derived from human PJVK AA range: 69-119
Specificity
This antibody detects endogenous levels of PJVK at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.23% sodium azide.
Dilution rate
WB 1:500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008],
Function
disease:Defects in PJVK are the cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59) [MIM:610220]. DFNB59 is a form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem.,function:Essential in the activity of auditory pathway neurons.,miscellaneous:'Pejvakin' means 'echo' in Persian.,similarity:Belongs to the gasdermin family.,
Other name
Pejvakin (Autosomal recessive deafness type 59 protein)
Human protein sequence Database
Q0ZLH3
Mouse protein sequence database
Q0ZLH2
Rat protein sequence database
Cellular localization
Peroxisome membrane . Cell projection, cilium . Associates with the peroxisomal membrane; it is unclear whether it is embedded or just associated with the peroxisomal membrane. Localizes to ciliary rootlet. .
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