概述

  • 产品名称
    Anti-Fukutin抗体
    参阅全部 Fukutin 一抗
  • 描述
    兔多克隆抗体to Fukutin
  • 经测试应用
    适用于: WBmore details
  • 种属反应性
    与反应: Human
    预测可用于: Mouse, Rat
  • 免疫原

    Recombinant protein fragment corresponding to a region within amino acids 222 and 456 of Human Fukutin (NP_006722).

  • 阳性对照
    • 293T, A431, H1299, HeLa, HepG2, MOLT4 and Raji cell lysate

性能

应用

Our Abpromise guarantee covers the use of ab97637 in the following tested applications.

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

应用 Ab评论 说明
WB 1/500 - 1/3000. Predicted molecular weight: 54 kDa.

靶标

  • 功能
    May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.
  • 组织特异性
    Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region.
  • 疾病相关
    Defects in FKTN are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]; also called congenital muscular dystrophy Fukuyama type (FCMD) or Walker-Warburg syndrome FKTN-related. MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. Patients suffer from generalized skeletal muscle weakness and hypotonia from early infancy, mental retardation and seizures. Occasional features include optic atrophy, retinal detachment, cardiomyopathy.
    Defects in FKTN are the cause of muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]. An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI in some cases, and absence of mental retardation.
    Defects in FKTN are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]. MDDGC4 is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles and elevated serum creatine kinase. The severity of the disease depends on age at onset which may vary from early to late childhood or even adulthood. MDDGC4 is a novel form of LGMD2 and has no brain involvement and a remarkable clinical response to corticosteroids.
    Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]; also called dilated cardiomyopathy with mild or no proximal muscle weakness. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
  • 序列相似性
    Belongs to the licD transferase family.
  • 细胞定位
    Golgi apparatus membrane.
  • Information by UniProt
  • 数据库链接
  • 别名
    • CMD1X antibody
    • FCMD antibody
    • FCMD gene antibody
    • FKTN antibody
    • FKTN_HUMAN antibody
    • Fukutin antibody
    • Fukuyama type congenital muscular dystrophy protein antibody
    • Fukuyama-type congenital muscular dystrophy protein antibody
    • LGMD2M antibody
    • MDDGA4 antibody
    • MDDGB4 antibody
    • MDDGC4 antibody
    • MGC126857 antibody
    • MGC134944 antibody
    • MGC134945 antibody
    • MGC138243 antibody
    • OTTHUMP00000021841 antibody
    • patient fukutin antibody
    see all

图片

  • All lanes : Anti-Fukutin antibody (ab97637) at 1/1000 dilution

    Lane 1 : H1299 whole cell lysate
    Lane 2 : Hela whole cell lysate

    Lysates/proteins at 30 µg per lane.


    Predicted band size : 54 kDa

实验方案

文献

ab97637 has not yet been referenced specifically in any publications.

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