Home Antibody All anti-GCH1 antibodies
Also for GCH1 (NM_000161)
|Peptide with sequence C-GKVHIGYLPNKQ, from the internal region of the protein sequence according to NP_000152.1 ; NP_001019195.1 ; NP_001019241.1 ; NP_001019242.1 .|
|Test: Human. Expected from seq similarity: Human, Mouse, Rat
||Lot dependent; please refer to CoA along with shipment
|0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin|
|Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide. Supplied at 0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin. Aliquot and store at -20C. Minimize freezing and thawing.
|Homo sapiens GTP cyclohydrolase 1 (GCH1), transcript variant 1|
|DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1; HPABH4B|
Entrez Gene 2643 Human
Entrez Gene 14528 Mouse
Entrez Gene 29244 Rat
|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]. |
|Druggable Genome Folate biosynthesisMetabolic pathways|
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TA305613 (1ug/ml) staining of Human Thymus lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.