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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
MGP - Matrix Gla Protein
Alias:
NTI
GIG36
MGLAP
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码成骨蛋白/基质Gla家族蛋白质的一员。这个维生素K依赖的蛋白质由软骨细胞和血管平滑肌细胞分泌,并作为异位组织钙化的生理抑制剂发挥作用。编码蛋白质的羧化状态与心血管疾病患者血管系统的钙化以及骨关节炎患者关节囊膜的钙化有关。这个基因的突变导致人类患者Keutel综合征,其特征是异常的软骨钙化、周围肺动脉狭窄和面部发育不全。[由RefSeq,2016年9月提供]
Related ID:
NCBI:4256
ENSEMBL:ENSG00000111341
HGNC:7060
UNIPROT:P08493
OMIM:154870
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4256
2
4
4991 bp
12.35
106
1
8
9
MGP 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
Alphabetical
Interactions
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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
No Data Found!
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