Rabbit anti-Human GCH1 Polyclonal Antibody

Uniprot Id

P30793

Target Species

Human

Target Name

GCH1

Target Full Name

GTP cyclohydrolase 1

Target Function

Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.

Target Involvement

Hyperphenylalaninemia, BH4-deficient, B (HPABH4B); Dystonia, dopa-responsive (DRD)

Target Subcellular Location

Cytoplasm. Nucleus.

Target Protein Families

GTP cyclohydrolase I family

Target Tissue Specificity

In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).

Target Synonyms

dystonia 14; DYT 5; DYT14; DYT5; DYT5a; GCH 1; GCH; Gch1; GCH1_HUMAN; GTP CH 1; GTP CH I ; GTP cyclohydrolase 1 (dopa responsive dystonia); GTP cyclohydrolase 1; GTP cyclohydrolase I; GTP-CH-I; GTPCH 1; GTPCH1; Guanosine 5' triphosphate cyclohydrolase I; HPABH4B

Target 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.