Pejvakin (DFNB59 deafness) Antikörper

Antigen: Pejvakin (DFNB59 deafness)

Klonalität: Polyklonal

Wirt: Kaninchen

Applikation: Immunhistochemie (IHC), Western Blot (WB)

Produktnummer: ABIN350074

Produktbeschreibung

Swiss-Prot: Q0ZLH3

Immunogen: A synthetic peptide from human Pejvakin conjugated to an immunogenic carrier protein was used as the immunogen. Te antigen is homologous in mouse.

Format: Lyophilized

Beschreibung: 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.

Spezifität: Appears to be specific for Pejvakin.

Anwendungen

Applikationshinweise: IHC, WB (confirmed by recombinant protein). 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.

Reinheit: whole serum

Lagerung: Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.

Beschränkungen: Nur für Forschungszwecke einsetzbar

Publikationen

Publikationen: 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).