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中文人类
PTS - 6-pyruvoyltetrahydropterin Synthase
Alias:
PTPS
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这个基因编码的酶催化从二氢神经磷脂三磷酸中消除无机三磷酸，这是从GTP生物合成四氢生物蝶呤的第二个不可逆步骤。四氢生物蝶呤，也称为BH(4)，是各种酶活性的必需辅因子和调节剂，包括参与血清素生物合成和一氧化氮合酶活性的酶。这个基因的突变导致高苯丙氨酸血症。[RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PTS 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
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CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
