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

• Cat.No.: FKRP-6306H
• Product Overview: FKRP MS Standard C13 and N15-labeled recombinant protein (NP_077277) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

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, cognitive disability, 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: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 54.6 kDa
• AA Sequence: MRLTRCQAALAAAITLNLLVLFYVS WLQHQPRNSRARGPRRASAAGPRVT VLVREFEAFDNAVPELVDSFLQQDP AQPVVVAADTLPYPPLALPRIPNVR LALLQPALDRPAAASRPETYVATEF VALVPDGARAEAPGLLERMVEALRA GSARLVAAPVATANPARCLALNVSL REWTARYGAAPAAPRCDALDGDAVV LLRARDLFNLSAPLARPVGTSLFLQ TALRGWAVQLLDLTFAAARQPPLAT AHARWKAEREGRARRAALLRALGIR LVSWEGGRLEWFGCNKETTRCFGTV VGDTPAYLYEERWTPPCCLRALRET ARYVVGVLEAAGVRYWLEGGSLLGA ARHGDIIPWDYDVDLGIYLEDVGNC EQLRGAEAGSVVDERGFVWEKAVEG DFFRVQYSESNHLHVDLWPFYPRNG VMTKDTWLDHRQDVEFPEHFLQPLV PLPFAGFVAQAPNNYRRFLELKFGP GVIENPQYPNPALLSLTGSGTRTRP LEQKLISEEDLAANDILDYKDDDDK V
• 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: 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_024301
• Protein Refseq: NP_077277
• MIM: 606596
• UniProt ID: Q9H9S5