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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
MMP13 - Matrix Metallopeptidase 13
Alias:
CLG3
MDST
MANDP1
MMP-13
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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
这个基因编码肽酶M10家族的成员,该家族成员参与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。编码的前原原蛋白在蛋白水解过程中被加工成成熟的蛋白酶。这种蛋白酶切割II型胶原的效率比I型和III型胶原更高。它可能涉及关节软骨的更新和与骨关节炎相关的软骨病理生理学。这个基因的突变与骨干发育异常有关。这个基因是染色体11上MMP基因簇的一部分。[RefSeq,2016年1月提供]
Related ID:
NCBI:4322
ENSEMBL:ENSG00000137745
HGNC:7159
UNIPROT:P45452
OMIM:600108
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4322
1
10
12738 bp
53.82
248
3
9
31
MMP13 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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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
Title
PMID
Journal
Year
IF
No Data Found!
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