GTP cyclohydrolase 1 (GCH1) (NM_001024071) Human 3' UTR Clone

Specifications

Product Data
Product Name	GTP cyclohydrolase 1 (GCH1) (NM_001024071) Human 3' UTR Clone
Vector	pMirTarget
Synonyms	DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B
ACCN	NM_001024071
Insert Size	1052 bp
Sequence Data	Insert Sequence (showhide) >SC212063 3’UTR clone of NM_001024071 The sequence shown below is from the reference sequence of NM_001024071. The complete sequence of this clone may contain minor differences, such as SNPs. Blue=Stop Codon Red=Cloning site GGCAAGTTGGACGCCCGCAAGATCCGCGAGATTCTCATTAAGGCCAAGAAGGGCGGAAAGATCGCCGTG TAACAATTGGCAGAGCTCAGAATTCAAGCGATCGCC GTGGTTGAAGCAACGTCTGCAGAACCATAGCTTCCACGCACCTGAACGAGCACAGAATGAACTGACGGT GGAAGACATTATGAGCTGTGTCCAACGTTTTAACCAAAGCGTATCGTACCAACGATCTGTGAAAATGCA CTGGAAGCTTCTGGTCCCGGTTTCCTTTGTGGTCTATGTGGGTCTTGTCCTCATTGTAACTCCGTATAG ATGGTATAGGTATTTTAATCCTGGAAGCTGTTGCCTTATTAATGATTATCTTAAAATTTCCTCCATTGG GGCAGCGTGGGCCAAATTAAAACAAACAAAACCGCAACTCCTCCACAGAAACACAAACACAGTTATTCC ATGAAGTTTAGTATTTGGTTGACATAGTGCTCTTCAAATTCATCCCATTACCCTAAAAGTAATAACTTT GATGCTTGCTTTAACTTTAGTCCCATCTCTGCCACTTTGATGCTATTTGGGTTATGATGGGGCAAGATG GCAGAGGTATTGGGTTTTTTTGTTTTTTTCCATTCCTCTCTACTTCTGTTTCCTAGCTTTTTCTTTCTG GAGTTTAAGTACAGTGATGGTTGGCTTGAGTACCTTTTTAAATCTAGCCCAGTATAAACATTAGCCTGC TTAATATTTAGACATTTATAGGTAGAATTCTGAGCACTCAACTCATGTTTGGCATTTTAAAGTAAAAAC AAGTGTGACTTCGAGGACCAAAGAAATTGTCAGCTATACATTTATCTTTATGAACTCATTTATATTCCT TTTTAATGACTCGTTGTTCTAACATTTCCTAGAAGTGTTCTTATAAAGGTCTAATGTATCCACAGGCTG TTGTCTTATTAGTAAATGCAAAGTAATGACTTTGTCTGTTTTACTCTAGTCTTTAGTACTTCAAAATTA CCTTTTCATATCCATGATCTTGAGTCCATTTGGGGGATTTTTAAGAATTTGATGTATTTCAATACACTG TTCAAAATTAAATTGTTTAATTTTATGTATGAGTATGTATGTTCCTGAAGGTGGTCCTATTTAAATTAT TAAACTATTGTAACTTT ACGCGTAAGCGGCCGCGGCATCTAGATTCGAAGAAAATGACCGACCAAGCGACGCCCAACCTGCCATCA CGAGATTTCGATTCCACCGCCGCCTTCTATGAAAGG
Restriction Sites	SgfI-MluI
OTI Disclaimer	Our molecular clone sequence data has been matched to the sequence identifier above as a point of reference. Note that the complete sequence of this clone is largely the same as the reference sequence but may contain minor differences , e.g., single nucleotide polymorphisms (SNPs).
Reference Data
RefSeq	NM_001024071.2
Synonyms	DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B
Summary	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. [provided by RefSeq, Jul 2008]
Locus ID	2643
MW	40.6

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