FCMD (Human) Recombinant Protein (Q01)
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More Files
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Specification
Product Description
Human FCMD partial ORF ( NP_006722, 29 a.a. - 138 a.a.) recombinant protein with GST-tag at N-terminal.
Sequence
KHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCL
Host
Wheat Germ (in vitro)
Theoretical MW (kDa)
37.84
Interspecies Antigen Sequence
Mouse (85); Rat (85)
Preparation Method
Purification
Glutathione Sepharose 4 Fast Flow
Quality Control Testing
12.5% SDS-PAGE Stained with Coomassie Blue.
Storage Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
Note
Best use within three months from the date of receipt of this protein.
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Applications
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
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Gene Info — FKTN
Entrez GeneID
2218GeneBank Accession#
NM_006731Protein Accession#
NP_006722Gene Name
FKTN
Gene Alias
CMD1X, FCMD, LGMD2M, MGC126857, MGC134944, MGC134945, MGC138243
Gene Description
fukutin
Gene Ontology
HyperlinkGene Summary
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq
Other Designations
Fukuyama type congenital muscular dystrophy protein|OTTHUMP00000021841
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Interactome
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Disease
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