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Deafness, Autosomal Recessive 59 Proteins (DFNB59)

The protein encoded by DFNB59 is a member of the gasdermin family, a family which is found only in vertebrates. Additionally we are shipping Pejvakin Antibodies (21) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
DFNB59 494513 Q0ZLH3
DFNB59 381375 Q0ZLH2
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Top Pejvakin Proteins at antibodies-online.com

Showing 2 out of 2 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details

DFNB59 Proteins by Origin and Source

Origin Expressed in Conjugate
Human

Mouse (Murine)

More Proteins for Deafness, Autosomal Recessive 59 (DFNB59) Interaction Partners

Human Deafness, Autosomal Recessive 59 (DFNB59) interaction partners

  1. 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.

  2. PCDH15 (show PCDH15 Proteins) or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 (show PCDH15 Proteins) or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients.

  3. a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene hearing loss in an isolated Arab population

  4. Missense mutation in PJVK causes progressive hearing loss.

  5. OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients

  6. 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

  7. DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy

  8. 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.

  9. 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

  10. Mutations in DFNB59 are associated with autosomal recessive non-syndromic hearing loss in about 6.7% of GJB2 (show GJB2 Proteins)-negative families.

Mouse (Murine) Deafness, Autosomal Recessive 59 (DFNB59) interaction partners

  1. 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.

  2. The pejvakin allele described here introduces a premature stop codon, causes outer hair cell defects, and leads to progressive hearing loss.

Pejvakin (DFNB59) Protein Profile

Protein Summary

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).

Gene names and symbols associated with DFNB59

  • deafness, autosomal recessive 59 (DFNB59)
  • deafness, autosomal recessive 59 (LOC100355041)
  • deafness, autosomal recessive 59 (human) (Dfnb59)
  • Gm1001 protein
  • Pjvk protein

Protein level used designations for DFNB59

deafness, autosomal recessive 59 , pejvakin , pejvakin-like , autosomal recessive deafness type 59 protein , autosomal recessive deafness type 59 protein homolog

GENE ID SPECIES
429015 Gallus gallus
459777 Pan troglodytes
478817 Canis lupus familiaris
618114 Bos taurus
100053789 Equus caballus
100355041 Oryctolagus cuniculus
100392795 Callithrix jacchus
100434728 Pongo abelii
100477138 Ailuropoda melanoleuca
100518993 Sus scrofa
100019666 Monodelphis domestica
100597016 Nomascus leucogenys
494513 Homo sapiens
381375 Mus musculus
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