Human GCH1 (NP_000152) VersaClone cDNA

R&D Systems, part of Bio-Techne | Catalog # RDC2883

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RDC2883
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Key Product Details

Species

Human

Accession Number

NP_000152

Formulation, Preparation, and Storage

Shipping

The product is shipped at ambient temperature. Upon receipt, store it immediately at the temperature recommended below.

Storage

Store the unopened product at -20 to -70 °C. Use a manual defrost freezer and avoid repeated freeze-thaw cycles. Do not use past expiration date.

Background: GCH1

GCH1 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.

Long Name

GTP Cyclohydrolase 1

Alternate Names

DYT5, DYT5a, GTP-CH-1, GTP-CH-I, GTPCH1

Entrez Gene IDs

2643 (Human)

Gene Symbol

GCH1

UniProt

NP_000152

Additional GCH1 Products

Product Documents for Human GCH1 (NP_000152) VersaClone cDNA

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Certificate of Analysis

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Product Specific Notices for Human GCH1 (NP_000152) VersaClone cDNA

For research use only

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