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中文人类
DYSF - Dysferlin
Alias:
MMD1
FER1L1
LGMD2B
LGMDR2
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这个基因编码的蛋白质属于ferlin家族，是一种与肌膜相关的骨骼肌蛋白质。它参与肌肉收缩，并含有C2结构域，在钙介导的膜融合事件中发挥作用，提示它可能参与膜的再生和修复。此外，这个基因编码的蛋白质与caveolin-3结合，caveolin-3是一种重要的肌膜蛋白，参与洞状斑的形成。这个基因的特定突变已被证明导致常染色体隐性四肢带肌营养不良2B型（LGMD2B）和Miyoshi肌病。可变剪接产生多个转录变异体。[由RefSeq，2008年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DYSF 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
