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Positive test controls include: THP-1, Mouse liver, Mouse brain, Mouse spleen, Rat lung, Rat liver. The target is usually found in the following locations: Cytoplasm, Nucleus.
Immunogen sequence: GERPRSEEDN ELNLPNLAAA YSSILSSLGE NPQRQGLLKT PWRAASAMQF FTKGYQETIS DVLNDAIFDE DHDEMVIVKD IDMFSMCEHH LVPFVGKVHI GYLPNKQVLG LSKLARIVEI YSRRLQVQER LTKQIAVAIT EALRPAGVGV VVEATHMCMV MRGVQKMNSK TVTSTMLGVF REDPKTREEF LTLIRS
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.
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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: dystonia 14; GTP cyclohydrolase 1; GTP cyclohydrolase I; GTP-CH-I; guanosine 5'-triphosphate cyclohydrolase I
基因别名: DYT14; DYT5; DYT5a; GCH; GCH1; GTP-CH; GTP-CH-1; GTPCH; GTPCH1; HPABH4B
UniProt ID: (Human) P30793, (Mouse) Q05915, (Rat) P22288
Entrez Gene ID: (Human) 2643, (Mouse) 14528, (Rat) 29244