Cell Biology Antibodies 16
Anti-GJB6 Antibody (CAB1028)
- SKU:
- CAB1028
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-GJB6 Antibody |
Antibody SKU: | CAB1028 |
Antibody Size: | 20uL, 50 uL |
Application: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 100-200 of human GJB6 (NP_006774.2). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human |
Positive Samples: |
Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 100-200 of human GJB6 (NP_006774.2). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | HETT RKFR RGEK RNDF KDIE DIKK QKVR IEGS LWWT YTSS IFFR IIFE AAFM YVFY FLYN GYHL PWVL KCGI DPCP NLVD CFIS RPTE KTVF TIFM ISAS V |
Gene ID: | 10804 |
Uniprot: | O95452 |
Cellular Location: | Cell junction, Cell membrane, Multi-pass membrane protein, gap junction |
Calculated MW: | 30kDa |
Observed MW: | Refer to Figures |
Synonyms: | GJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2 |
Background: | 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. |
UniProt Protein Function: | GJB6: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Belongs to the connexin family. Beta-type (group I) subfamily. A connexon is composed of a hexamer of connexins. Interacts with CNST |
UniProt Protein Details: | Protein type:Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 13q12 Cellular Component: connexon complex; apical plasma membrane; integral to membrane; cytosol Biological Process: negative regulation of cell proliferation; sensory perception of sound; apoptosis; cell communication; response to lipopolysaccharide; ear morphogenesis; response to electrical stimulus; inner ear development; aging Disease: Deafness, Autosomal Recessive 1a; Clouston Syndrome; Deafness, Autosomal Recessive 1b; Deafness, X-linked 2; Deafness, Autosomal Dominant 3b |
NCBI 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, Jul 2008] |
UniProt Code: | O95452 |
NCBI GenInfo Identifier: | 34978349 |
NCBI Gene ID: | 10804 |
NCBI Accession: | O95452.2 |
UniProt Secondary Accession: | O95452,Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0, B3KQN2 |
UniProt Related Accession: | O95452 |
Molecular Weight: | 261 |
NCBI Full Name: | Gap junction beta-6 protein |
NCBI Synonym Full Names: | gap junction protein, beta 6, 30kDa |
NCBI Official Symbol: | GJB6 |
NCBI Official Synonym Symbols: | ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B |
NCBI Protein Information: | gap junction beta-6 protein; connexin 30; connexin-30; gap junction protein, beta 6 (connexin 30); ectodermal dysplasia 2, hidrotic (Clouston syndrome) |
UniProt Protein Name: | Gap junction beta-6 protein |
UniProt Synonym Protein Names: | Connexin-30; Cx30 |
Protein Family: | Gap junction beta-6 protein |
UniProt Gene Name: | GJB6 |
UniProt Entry Name: | CXB6_HUMAN |