GCH1 rabbit pAb

SKU: ES9684

Size: 100μL

Source:Rabbit

Applications:WB;ELISA

Reactivity:Human;Mouse;Rat

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

Immunogen:Synthesized peptide derived from part region of human protein

Storage_stability:-20°C/1 year

Clonality:Polyclonal

Isotype:IgG

Concentration:1 mg/ml

Observed_band(KD):27kD

Human_gene_id:2643

Human_swiss_prot_no:P30793

Subcellular_location:Cytoplasm . Nucleus .

Other_name:

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],