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中文人类
GCH1 - GTP Cyclohydrolase 1
Alias:
GCH
DYT5
DYT14
DYT5a
GTPCH1
HPABH4B
GTP-CH-1
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这个基因编码GTP环化水解酶家族的成员。编码的蛋白质是四氢生物蝇呤（BH4）生物合成中的第一个和限速酶，催化GTP转化为7,8-二羟鸟嘌呤三磷酸。BH4是芳香族氨基酸羟化酶以及一氧化氮合酶所必需的必要辅因子。这个基因的突变与恶性高苯丙氨酸血症和多巴反应性肌张力障碍有关。已经描述了几种替代剪接的转录变异体，编码不同的异构体；然而，并非所有变异体都会产生功能酶。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GCH1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
