Anti-CHRNB1 Antibody (CAB5295)
- SKU:
- CAB5295
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Signal Transduction
Description
抗体名: | Anti-CHRNB1 Antibody |
抗体コード: | CAB5295 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB |
反応性: | Human, Mouse |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 25-235 of human CHRNB1 (NP_000738.2). |
申し込み: | WB |
推奨希釈: | WB 1:500 - 1:2000 |
反応性: | Human, Mouse |
ポジティブサンプル: | Mouse skeletal muscle, Mouse heart, Mouse kidney |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 25-235 of human CHRNB1 (NP_000738.2). |
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: | EAEG RLRE KLFS GYDS SVRP AREV GDRV RVSV GLIL AQLI SLNE KDEE MSTK VYLD LEWT DYRL SWDP AEHD GIDS LRIT AESV WLPD VVLL NNND GNFD VALD ISVV VSSD GSVR WQPP GIYR SSCS IQVT YFPF DWQN CTMV FSSY SYDS SEVS LQTG LGPD GQGH QEIH IHEG TFIE NGQW EIIH KPSR LIQP PGDP RGGR EGQR QEV |
遺伝子ID: | 1140 |
Uniprot: | P11230 |
セルラーロケーション: | Cell junction, Cell membrane, Multi-pass membrane protein, postsynaptic cell membrane, synapse |
計算された分子量: | 49kDa/56kDa |
観察された分子量: | 63kDa |
同義語: | CHRNB1, ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS |
バックグラウンド: | The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. |
UniProt Protein Function: | nAChRB1: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in CHRNB1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS). SCCMS is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. Defects in CHRNB1 are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD). CMS-ACHRD is a postsynaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 1/CHRNB1 sub-subfamily. |
UniProt Protein Details: | Protein type:Membrane protein, multi-pass; Channel, ligand-gated; Membrane protein, integral; Channel, cation Chromosomal Location of Human Ortholog: 17p13.1 Cellular Component: nicotinic acetylcholine-gated receptor-channel complex; postsynaptic membrane; integral to plasma membrane; synapse; cell junction Molecular Function:channel activity; acetylcholine receptor activity; acetylcholine binding; nicotinic acetylcholine-activated cation-selective channel activity; ligand-gated ion channel activity Biological Process: skeletal muscle contraction; regulation of membrane potential; muscle contraction; behavioral response to nicotine; neuromuscular synaptic transmission; muscle fiber development; signal transduction; postsynaptic membrane organization; transmembrane transport; cation transport; synaptic transmission, cholinergic; neurological system process Disease: Myasthenic Syndrome, Congenital, 2c, Associated With Acetylcholine Receptor Deficiency; Myasthenic Syndrome, Congenital, 2a, Slow-channel |
NCBI Summary: | The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008] |
UniProt Code: | P11230 |
NCBI GenInfo Identifier: | 21903373 |
NCBI Gene ID: | 1140 |
NCBI Accession: | P11230.3 |
UniProt Secondary Accession: | P11230,Q8IZ46, Q96FB8, B7Z5H1, |
UniProt Related Accession: | P11230 |
Molecular Weight: | 501 |
NCBI Full Name: | Acetylcholine receptor subunit beta |
NCBI Synonym Full Names: | cholinergic receptor, nicotinic, beta 1 (muscle) |
NCBI Official Symbol: | CHRNB1 |
NCBI Official Synonym Symbols: | ACHRB; CHRNB; CMS1D; CMS2A; SCCMS |
NCBI Protein Information: | acetylcholine receptor subunit beta; acetylcholine receptor, nicotinic, beta 1 (muscle); cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) |
UniProt Protein Name: | Acetylcholine receptor subunit beta |
Protein Family: | Acetylcholine receptor |
UniProt Gene Name: | CHRNB1 |
UniProt Entry Name: | ACHB_HUMAN |