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中文人类
MAN1B1 - Mannosidase Alpha Class 1B Member 1
Alias:
MRT15
ERMAN1
ERManI
MANA-ER
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这个基因编码一种属于糖基水解酶47家族的酶。这种酶在N-聚糖生物合成中发挥作用，是一种特异性的Man9GlcNAc转化为Man8GlcNAc异构体B的I类α-1,2-甘露糖苷酶。它对于内质网相关降解途径中的N-聚糖修剪成Man5-6GlcNAc2是必需的。这个基因的突变导致常染色体隐性智力障碍。可变剪接产生了多种转录变异体。在染色体11上已经发现了相关的假基因。[RefSeq,2011年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MAN1B1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
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Year
IF
