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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: 4732403I04; ARMD5; C130058G22Rik; CKN2; COFS; COFS1; CSB; ERCC6; POF11; RAD26; UVSS1
UniProt ID: (Human) P0DP91, (Mouse) F8VPZ5
Entrez Gene ID: (Human) 2074, (Rat) 306274, (Mouse) 319955