GTP cyclohydrolase 1 (GCH1) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC, WB
Recommend Dilution	ELISA: 1:1000-2000, WB: 1:200-1000, IHC: 1:5-20
Reactivity	Human, Mouse, Rat
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide corresponding to a region derived from 51-64 amino acids of human GTP cyclohydrolase 1
Formulation	PBS pH7.3, 0.05% NaN3, 50% glycerol
Concentration	lot specific
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Predicted Protein Size	28 kDa
Gene Name	GTP cyclohydrolase 1
Database Link	NP_000152 Entrez Gene 14528 MouseEntrez Gene 29244 RatEntrez Gene 2643 Human UniProt ID P30793
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.
Synonyms	DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B
Reference Data
Protein Families	Druggable Genome
Protein Pathways	Folate biosynthesis, Metabolic pathways

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