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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
PGAM2 - Phosphoglycerate Mutase 2
Alias:
GSD10
PGAMM
PGAM-M
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
磷酸甘油酸酶(PGAM)是糖酵解途径中3-磷酸甘油酸(3-PGA)到2-磷酸甘油酸(2-PGA)的可逆反应的催化酶。PGAM是一种二聚酶,在不同组织中,含有不同比例的慢迁移肌肉(MM)异构体、快迁移大脑(BB)异构体和混合形式(MB)。该基因编码肌肉特异性的PGAM亚基。该基因的突变导致肌肉磷酸甘油酸酶效率降低,也称为糖原储存病X。[由RefSeq,2009年9月提供]
Related ID:
NCBI:5224
ENSEMBL:ENSG00000164708
HGNC:8889
UNIPROT:P15259
OMIM:612931
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5224
1
3
2841 bp
28.77
146
1
3
6
PGAM2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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CAS Number
Status
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Link
No data available
References Literature
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IF
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