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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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ZMPSTE24 - Zinc Metallopeptidase STE24
Alias:
HGPS
PRO1
FACE1
RSDM1
STE24
FACE-1
Ste24p
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了金属蛋白酶M48A家族的一个成员。编码的蛋白质是一个锌金属蛋白酶,参与了翻译后两步对法尼基化前角蛋白A羧基末端残基的蛋白水解切割,形成成熟的角蛋白A。这个基因的突变与颌面-肢端发育不良和限制性皮肤发育不良有关。[由RefSeq提供,2008年7月]
Related ID:
NCBI:10269
ENSEMBL:ENSG00000084073
HGNC:12877
UNIPROT:O75844
OMIM:606480
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10269
3
10
35945 bp
54.81
196
4
6
19
ZMPSTE24 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
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Status
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Link
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References Literature
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