BD-PN0391

ACHG Rabbit Polyclonal Antibody

常规抗体

CHRNG ACHRG

Acetylcholine receptor subunit gamma

WB

Human,Mouse,Rat

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

1146

P07510

https://www.uniprot.org/uniprotkb/P07510/entry

P04760

http://www.uniprot.org/uniprot/P04760

P18916

http://www.uniprot.org/uniprot/O54941P18916

Synthesized peptide derived from human protein . at AA range: 30-110

ACHG Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

56kD

-20°C/1 year

Polyclonal, Rabbit,IgG

The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009],

Muscle fibroblast,PCR rescued clones,Tongue,

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

disease:Defects in CHRNG are a cause of Escobar syndrome [MIM:265000]; also called Escobar variant multiple pterygium syndrome or nonlethal type multiple pterygium syndrome. Escobar syndrome is a nonlethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis.,disease:Defects in CHRNG are a cause of lethal type multiple pterygium syndrome [MIM:253290]. Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. Inheritance can be autosomal dominant, autosomal recessive, or X linked, but autosomal recessive inheritance appears to be most common. Clinical expression is very variable, and, in the severest form, lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia (e.g., chin to sternum, cervical, axillary, humero-ulnar, crural, popliteal, and ankles), 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-in particular, cleft palate-are frequent.,function: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.,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.