"FKRP" Related Products


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.
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 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

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