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
Related Drugs
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]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1
4
21203 bp
55.65
176
1
5
5

ALG11 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.

Gene Expression

Tissue-specific RNA expression

Organ
Abundance
Alphabetical

Cell-specific RNA expression

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Abundance
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Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
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