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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
GMPPB - GDP-mannose Pyrophosphorylase B
Alias:
LGMDR19
MDDGA14
MDDGB14
MDDGC14
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因被认为编码一种GDP-甘露糖焦磷酸酶。编码的蛋白质催化甘露糖-1-磷酸和GTP转化为GDP-甘露糖,这是一个涉及N-连接寡糖产生的反应。已经描述了编码不同异构体的可变剪接转录变异体。[由RefSeq,2009年1月提供]
Related ID:
NCBI:29925
ENSEMBL:ENSG00000173540
HGNC:22932
UNIPROT:Q9Y5P6
OMIM:615320
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
29925
2
9
4036 bp
39.83
351
10
3
10
GMPPB 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
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Acting
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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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