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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
SLC35A2 - Solute Carrier Family 35 Member A2
Alias:
UGT
CDGX
UGAT
UGT1
UGT2
UGTL
CDG2M
UGALT
UDP-Gal-Tr
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码核苷糖转运蛋白家族的一员。编码的蛋白质是一种多跨膜蛋白。它将UDP-半乳糖从胞质溶胶转运到高尔基体囊泡中,在那里作为生成聚糖的糖基供体。这个基因的突变导致先天性糖基化异常IIm(CDG2M)。已经发现这个基因有多个可变剪接转录变异体,编码不同的异构体。[RefSeq,2014年10月提供]
Related ID:
NCBI:7355
ENSEMBL:ENSG00000102100
HGNC:11022
UNIPROT:P78381
OMIM:314375
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7355
8
5
8776 bp
41.31
260
2
2
23
SLC35A2 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)
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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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Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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