Recombinant Human FKTN Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: FKTN-962H
• Product Overview: FKTN MS Standard C13 and N15-labeled recombinant protein (NP_001073270) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• 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.
• Molecular Mass: 53.5 kDa
• AA Sequence: MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLYTRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: FKTN fukutin [ Homo sapiens (human) ]
• 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