Recombinant Human Fukutin protein (ab152383)

Overview

  • Product name
    Recombinant Human Fukutin protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      KHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPL ILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFR IAENMGFQCL
    • Molecular weight
      38 kDa including tags
    • Amino acids
      29 to 138

Specifications

Our Abpromise guarantee covers the use of ab152383 in the following tested applications.

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

  • Applications

    SDS-PAGE

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 µg/µl.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • CMD1X
    • FCMD
    • FCMD gene
    • FKTN
    • FKTN_HUMAN
    • Fukutin
    • Fukuyama type congenital muscular dystrophy protein
    • Fukuyama-type congenital muscular dystrophy protein
    • LGMD2M
    • MDDGA4
    • MDDGB4
    • MDDGC4
    • MGC126857
    • MGC134944
    • MGC134945
    • MGC138243
    • OTTHUMP00000021841
    • patient fukutin
    see all
  • Function
    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.
  • Tissue specificity
    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.
  • Involvement in disease
    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.
  • Sequence similarities
    Belongs to the licD transferase family.
  • Cellular localization
    Golgi apparatus membrane.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab152383 stained with Coomassie Blue.

References

ab152383 has not yet been referenced specifically in any publications.

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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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