Recombinant Human GCH1 Protein, GST-tagged

• Cat.No.: GCH1-4794H
• Product Overview: Human GCH1 full-length ORF ( AAH25415.1, 1 a.a. - 250 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 53.24 kDa
• AA Sequence: MEKGPVRAPAEKPRGARCSNGFPER DPPRPGPSRPAEKPPRPEAKSAQPA DGWKGERPRSEEDNELNLPNLAAAY SSILSSLGENPQRQGLLKTPWRAAS AMQFFTKGYQETISDVLNDAIFDED HDEMVIVKDIDMFSMCEHHLVPFVG KVHIGYLPNKQVLGLSKLARIVEIY SRRLQVQERLTKQIAVAITEALRPA GVGVVVEATHMCMVMRGVQKMNSKT VTSTMLGVFREDPKTREEFLTLIRS
• 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: GCH1 GTP cyclohydrolase 1 [ Homo sapiens ]
• Official Symbol: GCH1
• Synonyms: GCH1; GTP cyclohydrolase 1; dystonia 14, DYT5, DYT14, GCH; dopa responsive dystonia; DYT5a; GTPCH1; GTP-CH-I; dystonia 14; GTP cyclohydrolase I; guanosine 5-triphosphate cyclohydrolase I; GCH; DYT5; DYT14; HPABH4B; GTP-CH-1
• Gene ID: 2643
• mRNA Refseq: NM_001024070
• Protein Refseq: NP_001019241
• MIM: 600225
• UniProt ID: P30793