Deafness, Autosomal Recessive 59 (DFNB59) (AA 180-220) antibody

Details for Product No. ABIN350074
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Synonyms PJVK, Gm1001, Pjvk
AA 180-220
(2), (1), (1), (1)
(5), (2), (1)
Immunohistochemistry (IHC), Western Blotting (WB)
(5), (1), (1), (1)
Pubmed 3 references available
Catalog no. ABIN350074
Quantity 100 µL
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Immunogen A synthetic peptide from AA 180-220 of human Pejvakin conjugated to an immunogenic carrier protein was used as the antigen.
Specificity Specific for olfactory receptor OR2D3.
Purification whole serum
Alternative Name Pejvakin
Background Function: Essential in the activity of auditory pathway neurons. DISEASE: Defects in PJVK are the cause of non-syndromic sensorineural 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. Also known as: Autosomal recessive deafness type 59 protein, PJVK, DFNB59, DFNB59 deafness, autosomal recessive 59.
UniProt Q8NGH3
Research Area Neurology
Application Notes A dilution of 1 : 300 to 1 : 2000 is recommended.
The optimal dilution should be determined by the end user.
Not yet tested in other applications.
Restrictions For Research Use only
Format Liquid
Reconstitution Reconstitute in 100 µL of sterile water. Centrifuge to remove any insoluble material.
Handling Advice Avoid freeze and thaw cycles.
Storage -20 °C
Storage Comment Maintain the reconstituted antibodies frozen at -20 °C for long term storage and refrigerated at 2-8 °C for a shorter term.
Expiry Date 12 months
General Delmaghani, del Castillo, Michel et al.: "Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy." in: Nature genetics, Vol. 38, Issue 7, pp. 770-8, 2006 (PubMed).

Ebermann, Walger, Scholl et al.: "Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction." in: Human mutation, Vol. 28, Issue 6, pp. 571-7, 2007 (PubMed).

Marshall, Hinman, Collin et al.: "Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome." in: Human mutation, Vol. 28, Issue 11, pp. 1114-23, 2007 (PubMed).

Hosts (5)
Reactivities (5), (2), (1)
Applications (5), (1), (1), (1)
Epitopes (2), (1), (1), (1)
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