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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
ALG11 - ALG11 Alpha-1,2-mannosyltransferase
Alias:
GT8
CDG1P
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因编码GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-甘露糖基转移酶,该酶定位在内质网(ER)的细胞质侧,并催化第四个和第五个甘露糖残基从GDP-甘露糖(GDP-Man)转移到Man3GlcNAc2-PP-dolichol和Man4GlcNAc2-PP-dolichol,从而产生Man5GlcNAc2-PP-dolichol。这个基因的突变与先天性糖基化异常Ip(CDGIP)有关。这个基因与UTP14、U3小核仁核糖蛋白同源C(酵母)基因重叠但不同。已经在大染色体19上发现了一个GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-甘露糖基转移酶的假基因。[RefSeq,2010年8月提供]
Related ID:
NCBI:440138
ENSEMBL:ENSG00000253710
HGNC:32456
UNIPROT:Q2TAA5
OMIM:613666
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
440138
1
4
21203 bp
55.65
176
1
5
5
ALG11 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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