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中文人类
MBTPS2 - Membrane Bound Transcription Factor Peptidase, Site 2
Alias:
S2P
IFAP
KFSD
OI19
KFSDX
OLMSX
BRESEK
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这个基因编码一种膜内锌金属蛋白酶，在发育过程中是必不可少的。这种蛋白酶参与信号蛋白激活，涉及固醇对转录的控制和内质网应激反应。这个基因的突变与毛囊角化病伴秃发和畏光（IFAP综合征）有关；IFAP综合征与胆固醇稳态和内质网应激反应的减少有定量关联。[RefSeq,2009年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MBTPS2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
