Anti-GJB3 Antibody (CAB2949)
- SKU:
- CAB2949
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Frequently bought together:
Description
抗体名: | Anti-GJB3 Antibody |
抗体コード: | CAB2949 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB |
反応性: | Human, Mouse, Rat |
宿主種: | Rabbit |
免疫原: | Recombinant protein of human GJB3 |
申し込み: | WB |
推奨希釈: | WB 1:2000 - 1:50000 |
反応性: | Human, Mouse, Rat |
ポジティブサンプル: | Mouse testis, Mouse intestine |
免疫原: | Recombinant protein of human GJB3 |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | Email for sequence |
遺伝子ID: | 2707 |
Uniprot: | O75712 |
セルラーロケーション: | Cell junction, Cell membrane, Multi-pass membrane protein, gap junction |
計算された分子量: | 30kDa |
観察された分子量: | 31kDa |
同義語: | GJB3, CX31, DFNA2, DFNA2B, EKV, EKVP1 |
バックグラウンド: | This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. |
UniProt Protein Function: | GJB3: 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. Defects in GJB3 are a cause of erythrokeratodermia variabilis (EKV). EKV is a genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. Defects in GJB3 are the cause of deafness autosomal dominant type 2B (DFNA2B). DFNA2 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. Belongs to the connexin family. Beta-type (group I) subfamily. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass; Channel, misc. Chromosomal Location of Human Ortholog: 1p34 Cellular Component: connexon complex; cytoplasm; gap junction; integral to membrane Molecular Function:gap junction channel activity Biological Process: skin development; sensory perception of sound; in utero embryonic development; cell communication; transmembrane transport; placenta development Disease: Deafness, Autosomal Recessive 1a; Deafness, Autosomal Dominant 2b; Erythrokeratodermia Variabilis Et Progressiva |
NCBI Summary: | This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] |
UniProt Code: | O75712 |
NCBI GenInfo Identifier: | 6014758 |
NCBI Gene ID: | 2707 |
NCBI Accession: | O75712.1 |
UniProt Related Accession: | O75712 |
Molecular Weight: | ~31kDa |
NCBI Full Name: | Gap junction beta-3 protein |
NCBI Synonym Full Names: | gap junction protein beta 3 |
NCBI Official Symbol: | GJB3 |
NCBI Official Synonym Symbols: | EKV; CX31; DFNA2; EKVP1; DFNA2B |
NCBI Protein Information: | gap junction beta-3 protein |
UniProt Protein Name: | Gap junction beta-3 protein |
UniProt Synonym Protein Names: | Connexin-31; Cx31 |
Protein Family: | Gap junction beta-3 protein |
UniProt Gene Name: | GJB3 |
UniProt Entry Name: | CXB3_HUMAN |
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