GCH1 rabbit pAb
ENT-A8979
Description
| REF | ENT-A8979 |
|---|---|
| Category | Antibody Polyclonal |
| Description | GCH1 rabbit pAb |
| Source | Rabbit |
| Applications | WB;ELISA |
| Reactivity | Human;Mouse;Rat |
| 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],