Recombinant人CPT2 protein (ab114540)

概述

描述

  • 性质
    Recombinant
  • 来源
    Wheat germ
  • 氨基酸序列
    • Accession
    • 种属
      Human
    • 序列
      WFDKSFNLIIAKDGSTAIHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQR
    • 分子量
      37 kDa including tags
    • 氨基酸
      351 to 450

相关产品

技术指标

Our Abpromise guarantee covers the use of ab114540 in the following tested applications.

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

  • 应用

    SDS-PAGE

    Western blot

    ELISA

  • 形式
    Liquid
  • 补充说明
    Protein concentration is above or equal to 0.05 mg/ml.
    This protein is 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
    • Carnitine O palmitoyltransferase 2
    • Carnitine O palmitoyltransferase 2 mitochondrial
    • Carnitine O-palmitoyltransferase 2
    • Carnitine palmitoyltransferase 2
    • Carnitine palmitoyltransferase II
    • CPT 1
    • CPT 2
    • CPT II
    • CPT1
    • CPT2
    • CPT2_HUMAN
    • CPTASE
    • CPTII
    • IIAE4
    • mitochondrial
    see all
  • 通路
    Lipid metabolism; fatty acid beta-oxidation.
  • 疾病相关
    Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]; also known as CPT-II deficiency or CPT2 deficiency. CPT2D is an autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.
    Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2D-LN) [MIM:608836]; also known as lethal neonatal CPT-II deficiency. It is a lethal neonatal form of CPT2D. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity.
  • 序列相似性
    Belongs to the carnitine/choline acetyltransferase family.
  • 细胞定位
    Mitochondrion inner membrane.
  • Information by UniProt

图片

  • ab114540 analysed on a 12.5% SDS-PAGE Stained with Coomassie Blue.

文献

ab114540 has not yet been referenced specifically in any publications.

客户评价及客户问答

We have 2 CPT2 proteins in our catalogue: ab114540 and ab114539.

ab114540 is not a full length protein but corresponds to amino acids 351-450 of the full length protein and has a molecular weight of 36.63 kDa.

ab114539 is the full len...

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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