Protein Name GTP cyclohydrolase 1
Organism Homo sapiens
Gene ID 2643
Gene Symbol

GCH1

UniProt P30793 (GCH1_HUMAN), A0A024R642 (A0A024R642_HUMAN), Q8IZH9 (Q8IZH9_HUMAN)
Relationships Total Number of functionally related compound(s) : 184
Total Number of Articles : 364
Description

GTP cyclohydrolase 1

Gene Summary

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]

synonyms
  • GTP cyclohydrolase 1
  • GTP cyclohydrolase I
  • GTP-CH-I
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Properties