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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
BPGM - Bisphosphoglycerate Mutase
Alias:
DPGM
ECYT8
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
2,3-二磷酸甘油酸(2,3-DPG)是一种在红细胞中高浓度存在的小分子,与血红蛋白结合并降低其氧亲和力。这个基因编码一个多功能酶,通过其合成酶活性催化2,3-DPG的合成,并通过其磷酸酶活性催化2,3-DPG的降解。该酶还具有磷酸甘油酸磷酸变位酶活性。该酶的缺乏增加细胞对氧的亲和力。这个基因的突变导致溶血性贫血。已经识别出多种可变剪接的变异体,它们编码相同的蛋白质。[由RefSeq,2009年9月提供]
Related ID:
NCBI:669
ENSEMBL:ENSG00000172331
HGNC:1093
UNIPROT:P07738
OMIM:613896
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
669
5
3
32964 bp
30.00
19
2
5
21
BPGM Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Status
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References Literature
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