Anti-GCH1 Antibody Picoband®

SKU: A01210-3

Size: 100 μg

Storage: At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.

Form: Lyophilized

Reactivity: Human,Mouse,Rat

Applications: WB,Flow Cytometry,ELISA

Application Details: Western blot, 0.25-0.5 μg/ml, Human, Mouse, Rat
Flow Cytometry (Fixed), 1-3 μg/1x10⁶ cells, Human
ELISA, 0.1-0.5 μg/ml

Gene Name: GCH1

Specificity:

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.

Immunogen: E.coli-derived human GCH1 recombinant protein (Position: M1-S250). Human GCH1 shares 89.2% and 92.5% amino acid (aa) sequence identity with mouse and rat GCH1, respectively.

Clonality: Polyclonal

Contents: Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.

Purification: Immunogen affinity purified.

Reconstitution: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Reference: 1. Bandmann, O., Nygaard, T. G., Surtees, R., Marsden, C. D., Wood, N. W., Harding, A. E. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum. Molec. Genet. 5: 403-406, 1996. 2. Blau, N., Ichinose, H., Nagatsu, T., Heizmann, C. W., Zacchello, F., Burlina, A. B. A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. J. Pediat. 126: 401-405, 1995. 3. Bode, V. C., McDonald, J. D., Guenet, J.-L., Simon, D. Hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. Genetics 118: 299-305, 1988.

Uniprot ID: P30793

Host: Rabbit

Concentration: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Conjugate:

Cross Reactivity: No cross-reactivity with other proteins

Isotype: Rabbit IgG

Phospho_site:

Clone Number:

Observed Molecular Weight: 30 kDa

Calculated Molecular Weight: 28 kDa

Gene ID: 2643

Protein Name: GTP cyclohydrolase 1

Gene Full Name: GTP cyclohydrolase 1

Synonyms: GCH1; DYT5; GCH; GTP cyclohydrolase 1; EC 3.5.4.16; GTP cyclohydrolase I; GTP-CH-I