Anti-CHRNA1 Antibody (CAB13287)
- SKU:
- CAB13287
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Frequently bought together:
Description
| 抗体名: | Anti-CHRNA1 Antibody |
| 抗体コード: | CAB13287 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | IF |
| 反応性: | Human |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 105-220 of human CHRNA1 (NP_000070.1). |
| 申し込み: | IF |
| 推奨希釈: | IF 1:50 - 1:200 |
| 反応性: | Human |
| ポジティブサンプル: |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 105-220 of human CHRNA1 (NP_000070.1). |
| 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: | IWRP DLVL YNNA DGDF AIVK FTKV LLQY TGHI TWTP PAIF KSYC EIIV THFP FDEQ NCSM KLGT WTYD GSVV AINP ESDQ PDLS NFME SGEW VIKE SRGW KHSV TYSC CPDT PYLD |
| 遺伝子ID: | 1134 |
| Uniprot: | P02708 |
| 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: | 51kDa/54kDa |
| 観察された分子量: |
| 同義語: | CHRNA1, ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS |
| バックグラウンド: | The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. |
| UniProt Protein Function: | nAChRA1: 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 CHRNA1 are a cause of multiple pterygium syndrome lethal type (MUPSL). Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. The alpha subunit is the main focus for antibody binding in myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs. Defects in CHRNA1 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 CHRNA1 are a cause of congenital myasthenic syndrome fast-channel type (FCCMS). FCCMS is a congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. In most cases, FCCMS is due to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 1/CHRNA1 sub-subfamily. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Channel, ligand-gated; Receptor, misc.; Membrane protein, multi-pass; Channel, cation; Membrane protein, integral Chromosomal Location of Human Ortholog: 2q31.1 Cellular Component: nicotinic acetylcholine-gated receptor-channel complex; postsynaptic membrane; cell surface; plasma membrane; neuromuscular junction; cell junction Molecular Function:acetylcholine receptor activity; ion channel activity; nicotinic acetylcholine-activated cation-selective channel activity; acetylcholine binding Biological Process: skeletal muscle contraction; muscle maintenance; synaptic transmission; regulation of membrane potential; transport; neuromuscular process; generation of action potential; neuromuscular synaptic transmission; skeletal muscle growth; signal transduction; musculoskeletal movement; neuromuscular junction development Disease: Myasthenic Syndrome, Congenital, Fast-channel; Multiple Pterygium Syndrome, Lethal Type; Myasthenic Syndrome, Congenital, Slow-channel |
| NCBI Summary: | The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012] |
| UniProt Code: | P02708 |
| NCBI GenInfo Identifier: | 113071 |
| NCBI Gene ID: | 1134 |
| NCBI Accession: | P02708.2 |
| UniProt Secondary Accession: | P02708,B4DRV6, D3DPE8, |
| UniProt Related Accession: | P02708 |
| Molecular Weight: | |
| NCBI Full Name: | Acetylcholine receptor subunit alpha |
| NCBI Synonym Full Names: | cholinergic receptor, nicotinic, alpha 1 (muscle) |
| NCBI Official Symbol: | CHRNA1 |
| NCBI Official Synonym Symbols: | ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS |
| NCBI Protein Information: | acetylcholine receptor subunit alpha; nicotinic cholinergic receptor alpha 1; muscle nicotinic acetylcholine receptor; nicotinic acetylcholine receptor alpha subunit; acetylcholine receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) |
| UniProt Protein Name: | Acetylcholine receptor subunit alpha |
| Protein Family: | Acetylcholine receptor |
| UniProt Gene Name: | CHRNA1 |
| UniProt Entry Name: | ACHA_HUMAN |
 | Immunofluorescence analysis of HeLa cells using CHRNA1 antibody (CAB13287). Blue: DAPI for nuclear staining. |
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