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anti-Human Pejvakin Antibodies:
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Human Polyclonal Pejvakin Primary Antibody for IHC, WB - ABIN350074
Marshall, Hinman, Collin, Beck, Cerqueira, Maffei, Milan, Zhang, Wilson, Hearn, Tavares, Vettor, Veronese, Martin, So, Nishina, Naggert: Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. in Human mutation 2007
Show all 3 references for ABIN350074
Study describes a genetic form of noise-induced hearing loss , by showing that pejvakin deficiency in mice and DFNB59 patients leads to hypervulnerability to sound, due to a peroxisomal deficiency.
PCDH15 (show PCDH15 Antibodies) or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 (show PCDH15 Antibodies) or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients.
a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene hearing loss in an isolated Arab population
Missense mutation in PJVK causes progressive hearing loss.
OTOF (show OTOF Antibodies) and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients
failed to detect the presence either of mutations T54I and R183W in the exon 2 and exon 4 or any other deafness-associated mutations in the whole DFNB59 gene in this family
DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy
We have identified a consanguineous family segregating autosomal recessive congenital progressive hearing loss (ARNSHL) and retinal degeneration with central vestibular dysfunction having homozygosity for a DFNB59 mutation.
data indicate that nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population
Mutations in DFNB59 are associated with autosomal recessive non-syndromic hearing loss in about 6.7% of GJB2 (show GJB2 Antibodies)-negative families.
The pejvakin allele described here introduces a premature stop codon, causes outer hair cell defects, and leads to progressive hearing loss.
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).
deafness, autosomal recessive 59
, autosomal recessive deafness type 59 protein
, autosomal recessive deafness type 59 protein homolog