GCH1 rabbit pAb

• Background :

  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, Jul 2008]

• 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, Jul 2008],

• UniProt :

  P30793

• Swiss Prot :

  P30793

• Reactivity :

  Human; Mouse; Rat

• Immunogen :

  Synthesized peptide derived from part region of human protein

• Target :

  GCH1

• Clonality :

  Polyclonal

• Source :

  Rabbit

• Applications :

  WB; ELISA

• Concentration :

  1 mg/ml

• Dilution :

  WB 1:500-2000 ELISA 1:5000-20000

• Buffer :

  -20°C/1 year

• Molecular Weight :

  27kD

• Storage Conditions :

  -20°C/1 year

• Observed Molecular Weight :

  27kD

• Fragment :

  IgG

• Subcellular Location :

  Cytoplasm . Nucleus .

• Gene ID (Human) :

  2643