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

• Clonality:

  Polyclonal

• Source:

  Rabbit

• Applications:

  WB; ELISA

• Concentration:

  1 mg/ml

• Dilution:

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

• Molecular Weight:

  27kD

• Storage Conditions:

  -20°C/1 year

• Observed Molecular Weight:

  27kD

• Fragment:

  IgG

• Subcellular Location:

  Cytoplasm . Nucleus .

• Gene ID (Human):

  2643