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中文人类
OBSL1 - Obscurin Like Cytoskeletal Adaptor 1
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细胞骨架适配蛋白在将细胞内部细胞骨架与细胞膜连接中起作用。这个基因编码一个细胞骨架适配蛋白，是Unc-89/obscurin家族的成员。这个蛋白质包含多个N-和C-末端免疫球蛋白（Ig）样结构域和一个中央纤连蛋白类型3结构域。这个基因中的突变导致3M综合征2型。在这个基因中已经发现了编码不同异构体的可变剪接转录变异体。[RefSeq，2010年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
OBSL1 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
