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中文人类
PNPO - Pyridoxamine 5'-phosphate Oxidase
Alias:
PDXPO
HEL-S-302
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这个基因编码的酶催化吡哆醇5'-磷酸合成的最终、限速步骤，也称为维生素B6。维生素B6是参与同型半胱氨酸代谢和神经递质如儿茶酚胺合成的酶的必需辅因子。这个基因的突变导致吡哆胺5'-磷酸氧化酶（PNPO）缺乏，这是一种新生儿癫痫脑病的形式。[RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PNPO 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
