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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
ADAM12 - ADAM Metallopeptidase Domain 12
Alias:
MCMP
MLTN
CAR10
MLTNA
MCMPMltna
ADAM12-OT1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个蛋白质家族成员,该家族成员的结构与蛇毒蛋白酶相关,并涉及多种涉及细胞间和细胞基质相互作用的生物过程,包括受精、肌肉发育和神经发生。这个基因的表达已被用作产前发育的母体血清标志物。选择性剪接产生了多种转录变异体,编码不同的异构体。较短的异构体是分泌的,而较长的异构体是膜结合形式。[RefSeq,2014年1月提供]
Related ID:
NCBI:8038
ENSEMBL:ENSG00000148848
HGNC:190
UNIPROT:O43184
OMIM:602714
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8038
7
23
376087 bp
99.54
42
--
3
12
ADAM12 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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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
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Journal
Year
IF
No Data Found!
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