Recombinant Human FKRP, His-tagged

• Cat.No.: FKRP-12920H
• Product Overview: Recombinant Human FKRP protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.

Specification

• Description: This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
• Source: E.coli
• Species: Human
• Tag: His
• Protein length: 146-495a.a.
• 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: FKRP fukutin related protein [ Homo sapiens (human) ]
• Official Symbol: FKRP
• Synonyms: Fkrp; FKRP_HUMAN; FLJ12576; Fukutin related protein; Fukutin-related protein; LGMD2I; MDC1C; MGC2991
• Gene ID: 79147
• mRNA Refseq: NM_001039885.2
• Protein Refseq: NP_001034974.1
• MIM: 606596
• UniProt ID: Q9H9S5
• Chromosome Location: 19q13.32
• Function: transferase activity