Signal Transduction Antibodies 1

Anti-CHRND Antibody (CAB10467)

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SKU:
CAB10467
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Signal Transduction

Description

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Antibody Name:Anti-CHRND Antibody
Antibody SKU:CAB10467
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 22-245 of human CHRND (NP_000742.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse
Positive Samples:A-431, 293T, HeLa, Mouse lung
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 22-245 of human CHRND (NP_000742.1).
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:LNEE ERLI RHLF QEKG YNKE LRPV AHKE ESVD VALA LTLS NLIS LKEV EETL TTNV WIEH GWTD NRLK WNAE EFGN ISVL RLPP DMVW LPEI VLEN NNDG SFQI SYSC NVLV YHYG FVYW LPPA IFRS SCPI SVTY FPFD WQNC SLKF SSLK YTAK EITL SLKQ DAKE NRTY PVEW IIID PEGF TENG EWEI VHRP ARVN VDPR APLD SPSR QDIT FYLI IRRK
Gene ID:1144
Uniprot:Q07001
Cellular Location:Cell junction, Cell membrane, Multi-pass membrane protein, postsynaptic cell membrane, synapse
Calculated MW:57kDa/58kDa
Observed MW:59kDa
Synonyms:CHRND, ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS
Background:The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene.
UniProt Protein Function:nAChRD: 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 CHRND 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. Defects in CHRND 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 CHRND 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. Delta/CHRND sub-subfamily.
UniProt Protein Details:

Protein type:Channel, ligand-gated; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2q37.1

Cellular Component: plasma membrane

Molecular Function:acetylcholine binding; acetylcholine receptor activity; ligand-gated ion channel activity

Biological Process: muscle contraction; musculoskeletal movement; neuromuscular synaptic transmission; response to nicotine; signal transduction; skeletal muscle growth; synaptic transmission, cholinergic; transport

Disease: Multiple Pterygium Syndrome, Lethal Type; Myasthenic Syndrome, Congenital, 3a, Slow-channel; Myasthenic Syndrome, Congenital, 3b, Fast-channel; Myasthenic Syndrome, Congenital, 3c, Associated With Acetylcholine Receptor Deficiency

NCBI Summary:The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
UniProt Code:Q07001
NCBI GenInfo Identifier:543759
NCBI Gene ID:1144
NCBI Accession:Q07001.1
UniProt Secondary Accession:Q07001,Q52LH4, A8K661, B4DT92,
UniProt Related Accession:Q07001
Molecular Weight:57,085 Da
NCBI Full Name:Acetylcholine receptor subunit delta
NCBI Synonym Full Names:cholinergic receptor nicotinic delta subunit
NCBI Official Symbol:CHRND  
NCBI Official Synonym Symbols:ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS  
NCBI Protein Information:acetylcholine receptor subunit delta
UniProt Protein Name:Acetylcholine receptor subunit delta
Protein Family:Acetylcholine receptor
UniProt Gene Name:CHRND  
UniProt Entry Name:ACHD_HUMAN
Anti-CHRND Antibody (CAB10467)Western blot analysis of extracts of various cell lines, using CHRND antibody (CAB10467) at 1:3000 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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