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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
DPM3 - Dolichyl-phosphate Mannosyltransferase Subunit 3, Regulatory
Alias:
CDG1O
MDDGB15
MDDGC15
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
多磷酸甘露糖(Dol-P-Man)作为内质网(ER)腔侧甘露糖残基的供体。缺乏Dol-P-Man导致GPI锚定蛋白的表面表达缺陷。Dol-P-Man由ER胞质侧的酶多磷酸甘露糖基转移酶从GDP-甘露糖和多磷酸醇磷酸转移酶合成。这个基因编码的蛋白质是多磷酸甘露糖基转移酶的亚单位,并作为多磷酸甘露糖基转移酶复合物的稳定亚单位发挥作用。[RefSeq,2008年7月提供]
Related ID:
NCBI:54344
ENSEMBL:ENSG00000179085
HGNC:3007
UNIPROT:Q9P2X0
OMIM:605951
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54344
3
2
641 bp
10.09
58
2
2
11
DPM3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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