Recombinant Human FKTN, His-tagged

• Cat.No.: FKTN-12921H
• Product Overview: Recombinant Human FKTN protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Protein Length: 35-461a.a.
• 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.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol.

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
• Chromosome Location: 9q31-q33
• Function: transferase activity