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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
MMP20 - Matrix Metallopeptidase 20
Alias:
AI2A2
MMP-20
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
基质金属蛋白酶(MMP)家族的蛋白质涉及正常生理过程中细胞外基质的分解,如胚胎发育、繁殖和组织重塑,以及疾病过程中,如关节炎和转移。大多数MMPs作为无活性的前体蛋白质分泌,被细胞外蛋白酶切割后激活。这个基因编码的蛋白质降解牙釉蛋白,这是牙釉质基质的主要蛋白质成分,因此被认为在牙齿釉质的形成中起作用。这个基因的突变改变了正常的剪接模式,导致编码的蛋白质的过早终止,与牙本质发育不良有关。这个基因是位于染色体11q22.3的MMP基因簇的一部分。[RefSeq,2011年8月提供]
Related ID:
NCBI:9313
ENSEMBL:ENSG00000137674
HGNC:7167
UNIPROT:O60882
OMIM:604629
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9313
1
10
48501 bp
54.39
146
2
5
5
MMP20 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
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Cell-specific RNA expression
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Interactions
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Regulation
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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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IF
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