Human deafness, autosomal recessive 59 ELISA Kit | DFNB59 elisa kit
Human Pejvakin, DFNB59 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
DFNB59: Essential in the activity of auditory pathway neurons. Defects in PJVK are the cause of deafness autosomal recessive type 59 (DFNB59). 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. Belongs to the gasdermin family.
Chromosomal Location of Human Ortholog: 2q31.2
Cellular Component: cell soma
Biological Process: sensory perception of sound
Disease: Deafness, Autosomal Recessive 59
Research Articles on DFNB59
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Product Notes
The Human DFNB59 dfnb59 (Catalog #AAA9343101) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9343101 ELISA Kit recognizes Human DFNB59. It is sometimes possible for the material contained within the vial of "deafness, autosomal recessive 59, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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