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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
MAN2A1 - Mannosidase Alpha Class 2A Member 1
Alias:
MANA2
MANII
GOLIM7
AMan II
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个定位高尔基体的糖基水解酶,催化天冬酰胺连接的低聚糖(N-糖)成熟途径中的最终水解步骤。小鼠这个基因的同源物突变已被证明会导致一种类似于人类系统性红斑狼疮的全身性自身免疫疾病。[RefSeq,2013年12月提供]
Related ID:
NCBI:4124
ENSEMBL:ENSG00000112893
HGNC:6824
UNIPROT:Q16706
OMIM:154582
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4124
4
22
179699 bp
131.14
49
--
6
6
MAN2A1 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
Organ
Abundance
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Interactions
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Acting
Regulation
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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
No Data Found!
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