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Gene : GCH1 Homo sapiens

Name  ? GTP cyclohydrolase 1 Cytological Location  14q22.2
Brief Description  GTP cyclohydrolase 1
Description  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:
  • GCH,
  • OTTHUMG00000029754,
  • uc059bsc.1,
  • DYT5a,
  • HPABH4B,
  • GTP-CH-1,
  • DYT5,
  • U19523,
  • DYT5a,
  • NM_000161,
  • GTPCH1,
  • dystonia 14,
  • DYT14,
  • DYT5,
  • GCH,
  • GTPCH1,
  • DYT14,
  • HGNC:4193,
  • dopa-responsive dystonia,
  • GCH1
  • identifiers:
  • 2643,
  • ENSG00000131979,
  • GCH1

Genome feature

Region: gene ? Length: 60822  
Location: 14:54842005-54902826 reverse strand Cyto location: 14q22.2


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2 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results