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Deafness, Autosomal Dominant 5 Proteins (DFNA5)

Hearing impairment is a heterogeneous condition with over 40 loci described. Additionally we are shipping DFNA5 Antibodies (48) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
Rat DFNA5 DFNA5 353316  
DFNA5 1687 O60443
DFNA5 54722 Q9Z2D3
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Top DFNA5 Proteins at antibodies-online.com

Showing 4 out of 5 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
HOST_Wheat germ Human GST tag 10 μg Log in to see 9 Days
$405.71
Details
HOST_Human Human Un-conjugated   20 μg Log in to see 9 to 11 Days
$785.40
Details

DFNA5 Proteins by Origin and Source

Origin Expressed in Conjugate
Human , ,
,
Mouse (Murine)

More Proteins for Deafness, Autosomal Dominant 5 (DFNA5) Interaction Partners

Human Deafness, Autosomal Dominant 5 (DFNA5) interaction partners

  1. Genetic variations in the EYA4 (show EYA4 Proteins), GRHL2 (show GRHL2 Proteins) and DFNA5 genes and their interactions with occupational noise exposure may play an important role in the incidence of noise-induced hearing loss (NIHL).

  2. Study identified a novel DFNA5 mutation IVS8+1 delG in a Chinese family which led to skipping of exon 8. This is the sixth DFNA5 mutation relates to hearing loss and the second one in DFNA5 intron 8.

  3. We identified a novel c.991-2A>G mutation in DFNA5 which again may lead to exon 8 skipping at the mRNA level.

  4. DFNA5 deletion mutation is associated with autosomal dominant hereditary hearing loss in Japanese families.

  5. DFNA5 protein expression in hepatocellular carcinoma cells was significantly lower than that in normal cells.

  6. DFNA5 is composed of two domains, separated by a hinge region. The first region induces apoptosis when transfected in HEK293T cells, the second region masks and probably regulates this apoptosis inducing capability

  7. A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment.

  8. A founder effect was demonstrated for the mutation of the DFNA5 gene casusing hearing loss in East Asians.

  9. no significant linkage between age-related hearing impairment (ARHI (show DIRAS3 Proteins)) and microsatellite markers from the DFNA5 region; there exists no strong association between DFNA5 and ARHI (show DIRAS3 Proteins)

  10. Here, we report another mutation in DFNA5, a CTT (show TNNT2 Proteins) deletion in the polypyrimidine tract of intron 7.

Mouse (Murine) Deafness, Autosomal Dominant 5 (DFNA5) interaction partners

  1. These results suggest that DFNA5 plays a role in the p53 (show TP53 Proteins)-regulated cellular response to genotoxic stress probably by cooperating with p53 (show TP53 Proteins).

  2. The identification of the cochlear transcription initiation site (TIS (show PDCD4 Proteins)), the core promoter region between relative to the TIS (show PDCD4 Proteins) and an enhancer and a silencer element of Dfna5, is described.

DFNA5 Protein Profile

Protein Summary

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene.

Gene names and symbols associated with DFNA5

  • deafness, autosomal dominant 5 (human) (Dfna5)
  • deafness, autosomal dominant 5 (dfna5)
  • deafness, autosomal dominant 5 (DFNA5)
  • 2310037D07Rik protein
  • 4932441K13Rik protein
  • Dfna5h protein
  • EG14210 protein
  • Fin15 protein
  • fk59f08 protein
  • ICERE-1 protein
  • MGC83660 protein
  • wu:fc41e05 protein
  • wu:fk59f08 protein
  • zgc:91916 protein

Protein level used designations for DFNA5

deafness, autosomal dominant 5 , deafness, autosomal dominant 5 homolog , deafness, autosomal dominant 5 protein , inversely correlated with estrogen receptor expression 1 , non-syndromic hearing impairment protein 5 , nonsyndromic hearing impairment protein , hearing impairment protein DFNA5 , non-syndromic hearing impairment protein 5 homolog

GENE ID SPECIES
353316 Rattus norvegicus
335722 Danio rerio
420623 Gallus gallus
447067 Xenopus laevis
463295 Pan troglodytes
1687 Homo sapiens
611223 Canis lupus familiaris
616398 Bos taurus
100033992 Equus caballus
54722 Mus musculus
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