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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
COG5 - Component Of Oligomeric Golgi Complex 5
Alias:
CDG2I
GTC90
GOLTC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是形成高尔基体定位复合物(COG)的8个蛋白质(Cog1-8)之一,该复合物对正常高尔基体形态和功能是必需的。编码的蛋白质与保守的寡聚高尔基体复合物组分6、7和8一起组织成一个称为叶B的亚复合物。可变剪接导致多个转录变异体。这个基因的突变导致先天性糖基化障碍2I型。[由RefSeq提供,2011年1月]
Related ID:
NCBI:10466
ENSEMBL:ENSG00000164597
HGNC:14857
UNIPROT:Q9UP83
OMIM:606821
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10466
10
22
362549 bp
94.90
754
2
3
9
COG5 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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