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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Immunogen sequence: TLSLHEITDL LETDDSIEAS AIVIQPPENA TAPVSDEESG DEEGGTINNL PGSLLHTAAY LIQDGSDAES DSDDPSYAPK DDSPDEVPST FTVQQPPPSR RRKMTKILCK WKKADLTVQP VAGRVTAPPN DFFTVMRTPT E
Highest antigen sequence indentity to the following orthologs: Mouse - 25%, Rat - 25%.
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 protein CSB; DNA excision repair protein ERCC-6
基因别名: CSB; ERCC6
Entrez Gene ID: (Human) 2074