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Background: |
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. |
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Applications: |
ELISA, WB, IHC |
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Name of antibody: |
GCH1 |
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Immunogen: |
Synthetic peptide of human GCH1 |
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Full name: |
GTP cyclohydrolase 1 |
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Synonyms: |
GCH, DYT5, DYT14, DYT5a, GTPCH1, HPABH4B, GTP-CH-1 |
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SwissProt: |
P30793 |
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ELISA Recommended dilution: |
1000-5000 |
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IHC positive control: |
Human breast cancer |
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IHC Recommend dilution: |
5-20 |
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WB Predicted band size: |
28 kDa |
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WB Positive control: |
Human fetal liver tissue |
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WB Recommended dilution: |
500-2000 |