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中文人类
QDPR - Quinoid Dihydropteridine Reductase
Alias:
DHPR
PKU2
HDHPR
SDR33C1
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这个基因编码酶二氢蝶呤还原酶，该酶催化NADH介导的醌类二氢蝶呤还原。这个酶是蝶呤依赖性芳香族氨基酸羟化系统的基本组成部分。这个基因中的突变导致QDPR缺乏，包括异常剪接、氨基酸替换、插入或过早终止。二氢蝶呤还原酶缺乏表现为由于生物蝶呤产生不足而导致的非典型苯丙酮尿症，苯丙氨酸羟化酶的辅因子。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
QDPR 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
