FIGURE: 1 / 5
Keep as concentrated solution.
Predicted reactivity: Mouse (92%), Bovine (90%).
Positive Control: 293T, A431, HeLa, HepG2.
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: ATP-dependent helicase ERCC6; Chimeric CSB-PGBD3 protein; Chimeric ERCC6-PGBD3 protein; Cockayne syndrome group B protein; Cockayne syndrome protein CSB; CS group B correcting; DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein (isoform 1); excision repair cross-complementation group 6; excision repair cross-complementing rodent repair deficiency, complementation group 6
Gene Aliases: 4732403I04; ARMD5; C130058G22Rik; CKN2; COFS; COFS1; CSB; ERCC6; POF11; RAD26; UVSS1