| Gtp Cyclohydrolase I | OKDB#: 4016 |
| Symbols: | GCH1 | Species: | human | ||
| Synonyms: | GCH, DYT5, DYT14, GTPCH1, GTP-CH-1, | Locus: | 14q22.1-q22.2 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
| General function | Enzyme | ||||
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| Cellular localization | Cytoplasmic | ||||
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| Expression regulated by | LH | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | March 1, 2009, 7:10 a.m. | by: |
hsueh email:
home page: |
| last update: | March 1, 2009, 7:10 a.m. | by: | hsueh email: |
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