人 GCH1 (NM_001024071) cDNA克隆

基本信息

Accession: NM_001024071
基因名称: GCH1
基因别名: GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1
基因描述: Homo sapiens GTP cyclohydrolase 1 (GCH1), transcript variant 4, mRNA.
种属: Human
CDS区长度: 642 (查看编码区序列)
翻译后氨基酸长度: 213 (查看氨基酸序列)
Transcript Variant: This variant (4), also known as Type II, lacks an alternate in-frame exon in the 3' coding region and uses a downstream stop codon, compared to variant 1. The resulting non-functional protein (isoform 3) is shorter and has a distinct C-terminus, compared to variant 1.

订购信息

产品编号 产品名称 载体 规格 价格
G144380 人 GCH1 (NM_001024071) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 GCH1 (NM_000161) cDNA克隆 transcript variant 1
人 GCH1 (NM_001024024) cDNA克隆 transcript variant 2
人 GCH1 (NM_001024070) cDNA克隆 transcript variant 3
人 GCH1 (NM_001024071) cDNA克隆 transcript variant 4

基因简介

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]

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