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Anti-CHRNA1 Antibody

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产品名称: Anti-CHRNA1 Antibody
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Anti-CHRNA1 Antibody


Anti-CHRNA1 Antibody  的详细介绍
Name: Anti-CHRNA1 Antibody
See all CHRNA1 primary antibodies
Description: Rabbit polyclonal antibody to CHRNA1.
Applications: WB, IHC
Dilutions: WB: 1:500 - 1:2000, IHC: 1:50 - 1:200, IF: 1:10 - 1:100.
Reactivity: Human, Mouse, Rat
Immunogen: Recombinant protein of human CHRNA1.
Protein Length: 482 (457)
Host: Rabbit
Clonality: Polyclonal
Isotype: IgG
Conjugate: Unconjugated
Purification: Affinity purification.
Product Form: Liquid
Formulation: Supplied in Phosphate Buffered Saline, pH 7.30, with 0.02% Sodium Azide and 50% Glycerol.
Storage: Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
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.
Tissue Specificity: Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus.
Involvement in Disease: Multiple pterygium syndrome, lethal type: 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.

Myasthenic syndrome, congenital, 1A, slow-channel: A 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. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane.

Myasthenic syndrome, congenital, 1B, fast-channel: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and 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. CMS1B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential.
Sequence Similarities: 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.
Cellular Location: Cell junction > Synapse > Postsynaptic cell membrane. Cell membrane.
Database Links:
  • Entrez Gene: 1134?Human
  • Entrez Gene: 11435?Mouse
  • Entrez Gene: 79557?Rat
  • Omim: 100690?Human
  • SwissProt: P02708?Human
  • SwissProt: P04756?Mouse
  • SwissProt: P25108?Rat
  • Unigene: 434479?Human
  • Unigene: 4583?Mouse
  • Unigene: 44633?Rat
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    Synonyms:
  • Acetylcholine receptor subunit alpha Antibody
  • ACHA_HUMAN Antibody
  • AChR Antibody
  • ACHRA Antibody
  • ACHRD Antibody
  • CHNRA Antibody
  • Cholinergic receptor nicotinic alpha 1 subunit Antibody
  • Cholinergic receptor nicotinic alpha polypeptide 1 Antibody
  • Cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) Antibody
  • Chrna1 Antibody
  • CMS1A Antibody
  • CMS1B Antibody
  • CMS2A Antibody
  • FCCMS Antibody
  • Nicotinic Acetylcholine Receptor alpha 1 Antibody
  • Nicotinic cholinergic receptor alpha 1 Antibody
  • SCCMS Antibody
  • Schizophrenia neurophysiologic defect candidate Antibody
    		•
    Information: Target information shown above is from the UniProt Consortium.
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