GJB6 polyclonal antibody
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Specification
Product Description
Goat polyclonal antibody raised against synthetic peptide of GJB6.
Immunogen
A synthetic peptide corresponding to amino acids at internal region of human GJB6.
Sequence
C-RSKRAQTQKNHPNH
Host
Goat
Theoretical MW (kDa)
30.4
Specificity
Reported variants represent identical protein: NP_006774.2, NP_001103691.1, NP_001103689.1, NP_001103690.1
Form
Liquid
Purification
Antigen affinity purification
Concentration
0.5 mg/mL
Recommend Usage
ELISA (1:16000)
The optimal working dilution should be determined by the end user.Storage Buffer
In Tris saline, pH 7.3 (0.5% BSA, 0.02% sodium azide)
Storage Instruction
Store at -20°C.
Aliquot to avoid repeated freezing and thawing.Note
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Applications
Enzyme-linked Immunoabsorbent Assay
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Gene Info — GJB6
Entrez GeneID
10804Protein Accession#
NP_006774.2Gene Name
GJB6
Gene Alias
CX30, DFNA3, ED2, EDH, HED
Gene Description
gap junction protein, beta 6, 30kDa
Gene Ontology
HyperlinkGene Summary
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq
Other Designations
OTTHUMP00000018096|OTTHUMP00000176870|OTTHUMP00000176871|OTTHUMP00000176872|connexin 30|ectodermal dysplasia 2, hidrotic (Clouston syndrome)|gap junction protein, beta 6|gap junction protein, beta 6 (connexin 30)
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Interactome
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Disease
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Publication Reference
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Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.
Biochemical and Biophysical Research Communications 2009 Feb; 385(1):1.
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Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
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