Recombinant Human FKTN Protein, GST-tagged

• Cat.No.: FKTN-4016H
• Product Overview: Human FCMD partial ORF ( NP_006722, 29 a.a. - 138 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: 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). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 37.84 kDa
• AA Sequence: KHYLSTKNGAGLSKSKGSRIGFDST QWRAVKKFIMLTSNQNVPVFLIDPL ILELINKNFEQVKNTSHGSTSQCKF FCVPRDFTAFALQYHLWKNEEGWFR IAENMGFQCL
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: FKTN fukutin [ Homo sapiens ]
• Official Symbol: FKTN
• Synonyms: FKTN; fukutin; FCMD, Fukuyama type congenital muscular dystrophy (fukutin); LGMD2M; patient fukutin; Fukuyama type congenital muscular dystrophy protein; FCMD; CMD1X; MDDGA4; MDDGB4; MDDGC4; MGC126857; MGC134944; MGC134945; MGC138243
• Gene ID: 2218
• mRNA Refseq: NM_001079802
• Protein Refseq: NP_001073270
• MIM: 607440
• UniProt ID: O75072