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中文人类
PHGDH - Phosphoglycerate Dehydrogenase
Alias:
NLS
PDG
PGD
NLS1
PGAD
PGDH
SERA
3PGDH
3-PGDH
PHGDHD
HEL-S-113
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这个基因编码的酶参与动物细胞中L-丝氨酸合成的早期步骤。L-丝氨酸是D-丝氨酸和其他氨基酸合成所必需的。该酶需要NAD/NADH作为辅因子，并形成活性四聚体。在这个基因中发现的突变导致一个家族出现先天性小头畸形、精神运动迟缓和其他症状。已经发现了多种可变剪接的转录本变异体，然而大多数的完整长度尚不清楚。[由RefSeq，2011年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PHGDH 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
