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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
ALG12 - ALG12 Alpha-1,6-mannosyltransferase
Alias:
CDG1G
ECM39
hALG12
PP14673
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码糖基转移酶22家族的一员。编码的蛋白质催化α-1,6键上的第八个甘露糖残基添加到蛋白质糖基化所需的前体dolichol-PP-寡糖(dolichol-PP-Man(7)GlcNAc(2))上。这个基因的突变与先天性糖基化异常类型Ig(CDG-Ig)有关,其特征是异常的N-糖基化。[由RefSeq,2008年7月提供]
Related ID:
NCBI:79087
ENSEMBL:ENSG00000182858
HGNC:19358
UNIPROT:Q9BV10
OMIM:607144
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79087
3
10
59128 bp
54.66
517
1
3
9
ALG12 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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