Recombinant人CHRND protein (ab116971)

概述

  • 产品名称Recombinant人CHRND protein
  • 蛋白长度Protein fragment

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionQ07001
    • 种属Human
    • 序列EEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETL TTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSF QISYSCN
    • 分子量37 kDa including tags
    • 氨基酸24 to 130

技术指标

Our Abpromise guarantee covers the use of ab116971 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    Western blot

    SDS-PAGE

    ELISA

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

常规信息

  • 别名
    • Acetylcholine receptor delta subunit
    • Acetylcholine receptor subunit delta
    • ACHD_HUMAN
    • ACHRD
    • Cholinergic receptor, nicotinic, delta polypeptide
    • CHRND
    • CMS2A
    • FCCMS
    • Nicotinic acetylcholine receptor delta polypeptide precursor
    • SCCMS
    see all
  • 功能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.
  • 疾病相关Defects in CHRND are a cause of multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]. 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) [MIM:601462]. 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) [MIM:608930]. 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.
  • 序列相似性Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily.
  • 细胞定位Cell junction > synapse > postsynaptic cell membrane. Cell membrane.
  • Information by UniProt

Recombinant Human CHRND protein 图像

  • 12.5% SDS-PAGE showing ab116971 at approximately 37.40kDa.
    Stained with Coomassie Blue.

Recombinant Human CHRND protein (ab116971)参考文献

ab116971 has not yet been referenced specifically in any publications.

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