Recombinant Human FKRP Protein, GST-tagged

• Cat.No.: FKRP-8893H
• Product Overview: Human FKRP partial ORF ( NP_077277.1, 396 a.a. - 494 a.a.) recombinant protein with GST-tag at N-terminal was expressed in Wheat Germ.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• 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.
• Molecular Mass: 36.63 kDa
• AA Sequence: KAVEGDFFRVQYSESNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIENPQYPNPALLSLTGS
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: FKRP fukutin related protein [ Homo sapiens (human) ]
• Official Symbol: FKRP
• Synonyms: FKRP; fukutin related protein; FKTR; MDC1C; LGMD2I; LGMDR9; MDDGA5; MDDGB5; MDDGC5; ribitol 5-phosphate transferase FKRP; ribitol-5-phosphate transferase
• Gene ID: 79147
• mRNA Refseq: NM_024301
• Protein Refseq: NP_077277
• MIM: 606596
• UniProt ID: Q9H9S5