"DFNA5" Related Products

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Recombinant Human DFNA5

Cat.No.: DFNA5-27202TH
Product Overview: Recombinant full length Human DFNA5 with N terminal proprietary tag. Predicted MW 80.63 kDa.
Description: 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.
Protein length: 496 amino acids
Molecular Weight: 80.630kDa inclusive of tags
Source: Wheat germ
Tissue specificity: Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.
Form: Liquid
Purity: Proprietary Purification
Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
Sequences of amino acids: MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKK KRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRK QEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGN VTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGK QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDG PLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFL QLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLK DTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL LCITLNGLCALGREHS
Sequence Similarities: Belongs to the gasdermin family.
Gene Name: DFNA5 deafness, autosomal dominant 5 [ Homo sapiens ]
Official Symbol: DFNA5
Synonyms: DFNA5; deafness, autosomal dominant 5; non-syndromic hearing impairment protein 5; ICERE 1;
Gene ID: 1687
mRNA Refseq: NM_001127453
Protein Refseq: NP_001120925
MIM: 608798
Uniprot ID: O60443
Chromosome Location: 7p15

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