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Protein structure
GCH1
GTP cyclohydrolase 1DYT14, DYT5, DYT5a, GCH, GTPCH1
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]
Top validated antibodies |
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| Abnova Corporation |  H00002643-M01 |
11 references | Monoclonal |
WB
EL
IP
IHC
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| antibodies-online | ABIN396170 |
5 references | Monoclonal |
WB
EL
IP
IHC
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| Invitrogen Antibodies | H00002643-M01 |
Monoclonal |
WB
EL
IP
IHC
OA
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| LSBio | LS-C133216 |
Monoclonal |
WB
EL
IP
|
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| NovoPro Bioscience Inc. | 121172 |
Monoclonal |
WB
EL
IP
IHC
|
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