Full Product Name
DFNA5, NT (Non-syndromic Hearing Impairment Protein 5, Inversely Correlated With Estrogen Receptor Expression 1, ICERE-1, ICERE1)
Product Synonym Names
Anti -DFNA5, NT (Non-syndromic Hearing Impairment Protein 5, Inversely Correlated With Estrogen Receptor Expression 1, ICERE-1, ICERE1)
Product Gene Name
anti-DFNA5 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Chromosome Location
Chromosome: 7; NC_000007.13 (24737974..24797639, complement). Location: 7p15
3D Structure
ModBase 3D Structure for O60443
Specificity
Recognizes human DFNA5.
Purity/Purification
Purified
Purified by ammonium sulfate precipitation.
Form/Format
Supplied as a liquid in PBS, 0.09% sodium azide.
Immunogen
Synthetic peptide selected from the N-terminal region of human DFNA5 (KLH).
Preparation and Storage
May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Other Notes
Small volumes of anti-DFNA5 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-DFNA5 antibody
Hearing impairment is a heterogeneous condition with over 40 loci described. DFNA5 is expressed in fetal cochlea, however, its function is not known.
Product Categories/Family for anti-DFNA5 antibody
Antibodies; Abs to Receptors, Estrogen
Applications Tested/Suitable for anti-DFNA5 antibody
ELISA (EL/EIA), Western Blot (WB)
Application Notes for anti-DFNA5 antibody
Suitable for use in ELISA and Western Blot.
Dilution: ELISA: 1:1,000
Western Blot: 1:50-1:100
NCBI/Uniprot data below describe general gene information for DFNA5. It may not necessarily be applicable to this product.
UniProt Primary Accession #
O60443
[Other Products]
UniProt Secondary Accession #
O14590; Q08AQ8; Q9UBV3; A4D156; B2RAX9[Other Products]
UniProt Related Accession #
O60443[Other Products]
Molecular Weight
54,555 Da[Similar Products]
NCBI Official Full Name
DFNA5 protein
NCBI Official Synonym Full Names
deafness, autosomal dominant 5
NCBI Official Symbol
DFNA5??[Similar Products]
NCBI Official Synonym Symbols
ICERE-1
??[Similar Products]
NCBI Protein Information
non-syndromic hearing impairment protein 5; OTTHUMP00000122464; OTTHUMP00000202025; OTTHUMP00000202026; nonsyndromic hearing impairment protein; inversely correlated with estrogen receptor expression 1
UniProt Protein Name
Non-syndromic hearing impairment protein 5
UniProt Synonym Protein Names
Inversely correlated with estrogen receptor expression 1
Protein Family
Non-syndromic hearing impairment protein
UniProt Gene Name
DFNA5??[Similar Products]
UniProt Synonym Gene Names
ICERE1??[Similar Products]
UniProt Entry Name
DFNA5_HUMAN
NCBI Summary for DFNA5
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. [provided by RefSeq]
UniProt Comments for DFNA5
DFNA5: Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53. Defects in DFNA5 are the cause of deafness autosomal dominant type 5 (DFNA5). DFNA5 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Is a tumor suppressor gene with an important role in major types of tumors. Could be a valuable molecular marker in cancer. Belongs to the gasdermin family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Tumor suppressor
Chromosomal Location of Human Ortholog: 7p15
Cellular Component: cytoplasm
Biological Process: negative regulation of cell proliferation; sensory perception of sound; inner ear receptor cell differentiation; apoptosis
Disease: Deafness, Autosomal Dominant 5
Research Articles on DFNA5
1. Observational study of gene-disease association. (HuGE Navigator)
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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