Recombinant Human GTP cyclohydrolase 1 (GCH1)

Cat.No	ACP23549	Target Name	GCH1
Form	Lyophilized powder	Expression System	Custom Production. Please inquire and provide the desire expression system.
Expression Range	1-250	Protein Length	Full length protein
Purity	>85% (SDS-PAGE)	Storage Buffer	5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Cat.No

ACP23549

Target Name

GCH1

Form

Lyophilized powder

Expression System

Custom Production. Please inquire and provide the desire expression system.

Expression Range

1-250

Protein Length

Full length protein

Purity

>85% (SDS-PAGE)

Storage Buffer

5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Target Species	Human	Uniprot ID	P30793

Background Information

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.

Recombinant Human GTP cyclohydrolase 1 (GCH1)

Specifications

Immunogen Information

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