Name: Anti-CHRNA1 Antibody (CAB13287)
Brand: Signal Transduction Antibodies 1
SKU: CAB13287
Availability: OutOfStock

Antibody Name:	Anti-CHRNA1 Antibody
Antibody SKU:	CAB13287
Antibody Size:	20uL, 50uL, 100uL
Application:	IF
Reactivity:	Human
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 105-220 of human CHRNA1 (NP_000070.1).

Application:	IF
Recommended Dilution:	IF 1:50 - 1:200
Reactivity:	Human
Positive Samples:

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 105-220 of human CHRNA1 (NP_000070.1).
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:	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
Gene ID:	1134
Uniprot:	P02708
Cellular Location:	Cell junction, Cell membrane, Multi-pass membrane protein, postsynaptic cell membrane, synapse
Calculated MW:	51kDa/54kDa
Observed MW:

Synonyms:	CHRNA1, ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS
Background:	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