GTP cyclohydrolase 1 (GCH1) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	WB
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	The immunogen for anti-GCH1 antibody: synthetic peptide directed towards the C terminal of human GCH1. Synthetic peptide located within the following region: LRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLT
Formulation	Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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 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
Note	Immunogen Sequence Homology: Dog: 100%; Pig: 100%; Rat: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Bovine: 100%; Rabbit: 100%; Guinea pig: 100%; Zebrafish: 93%; Yeast: 85%
Reference Data
Protein Families	Druggable Genome
Protein Pathways	Folate biosynthesis, Metabolic pathways

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