NP_000152.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
25,775 Da
NCBI Official Full Name
GTP cyclohydrolase 1 isoform 1
NCBI Official Synonym Full Names
GTP cyclohydrolase 1
NCBI Official Synonym Symbols
GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1 [Similar Products]
NCBI Protein Information
GTP cyclohydrolase 1
UniProt Protein Name
GTP cyclohydrolase 1
UniProt Synonym Protein Names
GTP cyclohydrolase I; GTP-CH-I
UniProt Synonym Gene Names
UniProt Entry Name
GCH1_HUMAN
NCBI Summary for GCH1
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]
UniProt Comments for GCH1
Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.
Research Articles on GCH1
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Products associated with anti-GCH1 antibody
Pathways associated with anti-GCH1 antibody
Diseases associated with anti-GCH1 antibody
Organs/Tissues associated with anti-GCH1 antibody
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