Anti-GJB1 Antibody (CAB10112)
- SKU:
- CAB10112
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
| 抗体名: | Anti-GJB1 Antibody |
| 抗体コード: | CAB10112 |
| 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 fusion protein containing a sequence corresponding to amino acids 214-283 of human GJB1 (NP_000157.1). |
| 申し込み: | WB |
| 推奨希釈: | WB 1:200 - 1:1000 |
| 反応性: | Human, Mouse, Rat |
| ポジティブサンプル: | LO2, MCF7, 293T, A375, Mouse brain, Mouse liver, Rat liver, Rat kidney |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 214-283 of human GJB1 (NP_000157.1). |
| 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: | IRAC ARRA QRRS NPPS RKGS GFGH RLSP EYKQ NEIN KLLS EQDG SLKD ILRR SPGT GAGL AEKS DRCS AC |
| 遺伝子ID: | 2705 |
| Uniprot: | P08034 |
| 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: | 32kDa |
| 観察された分子量: | 32kDa/36kDa |
| 同義語: | GJB1, CMTX, CMTX1, CX32 |
| バックグラウンド: | This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. |
| UniProt Protein Function: | GJB1: 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 GJB1 are the cause of Charcot-Marie-Tooth disease X-linked type 1 (CMTX1); also designated CMT- X. CMTX1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. Defects in GJB1 may contribute to the phenotype of Dejerine-Sottas syndrome (DSS); also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine- Sottas syndrome. Belongs to the connexin family. Beta-type (group I) subfamily. |
| UniProt Protein Details: | Protein type:Motility/polarity/chemotaxis; Membrane protein, multi-pass; Membrane protein, integral; Channel, misc. Chromosomal Location of Human Ortholog: Xq13.1 Cellular Component: connexon complex; endoplasmic reticulum membrane; integral to membrane Molecular Function:protein homodimerization activity Biological Process: nervous system development; gap junction assembly; cell-cell signaling; transport Disease: Charcot-marie-tooth Disease, X-linked Dominant, 1 |
| NCBI Summary: | This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] |
| UniProt Code: | P08034 |
| NCBI GenInfo Identifier: | 117688 |
| NCBI Gene ID: | 2705 |
| NCBI Accession: | P08034.1 |
| UniProt Secondary Accession: | P08034,Q5U0S4, B2R8R2, D3DVV2, |
| UniProt Related Accession: | P08034 |
| Molecular Weight: | 32,025 Da |
| NCBI Full Name: | Gap junction beta-1 protein |
| NCBI Synonym Full Names: | gap junction protein, beta 1, 32kDa |
| NCBI Official Symbol: | GJB1 |
| NCBI Official Synonym Symbols: | CMTX; CX32; CMTX1 |
| NCBI Protein Information: | gap junction beta-1 protein; connexin 32; connexin-32; GAP junction 28 kDa liver protein |
| UniProt Protein Name: | Gap junction beta-1 protein |
| UniProt Synonym Protein Names: | Connexin-32; Cx32; GAP junction 28 kDa liver protein |
| Protein Family: | Gap junction beta-1 protein |
| UniProt Gene Name: | GJB1 |
| UniProt Entry Name: | CXB1_HUMAN |
 | Western blot analysis of extracts of various cell lines, using GJB1 antibody (CAB10112) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s. |
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