基因名称(Gene Name)
PJVK DFNB59
免疫原
Synthesized peptide derived from human PJVK AA range: 69-119
特异性
This antibody detects endogenous levels of PJVK at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.23% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
Pejvakin (Autosomal recessive deafness type 59 protein)
背景
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],
功能
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.,
