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]

Specificity:

GTP cyclohydrolase 1

Alternative names:

DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B

Species reactivity:

Human, Mouse, Rat

Host:

Mouse

Ig type:

PBS (PH 7.3) containing 1% BSA, 50% glycerol and 0.02% sodium azide.

Immunogen:

Full length human recombinant protein of human GCH1 (NP_001019195) produced in E.coli.

Purification & Purity:

Purified from mouse ascites fluids or tissue culture supernatant by affinity chromatography (protein A/G)

Molecular weight:

27.7 kDa(Predicted)

Applications:

IHC, WB

Usage:

WB 1:2000, IHC 1:500

Storage:

PBS (PH 7.3) containing 1% BSA, 50% glycerol and 0.02% sodium azide.

Precautions:

For research use only, not for use in diagnostic procedure.

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