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中文人类
BFSP1 - Beaded Filament Structural Protein 1
Alias:
CP94
CP115
LIFL-H
CTRCT33
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这个基因编码一种名为filensin的镜头特异性的中间纤维样蛋白。在分化开始后在镜头纤维细胞中表达。这种蛋白质作为细胞骨架结构珠状丝的组成部分发挥作用，该结构存在于镜头纤维细胞中。这个基因的突变是导致常染色体隐性遗传的皮质性青少年发作性白内障的原因。交替剪接导致多个转录变异体。[RefSeq,2013年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BFSP1 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
