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中文人类
SPTAN1 - Spectrin Alpha, Non-erythrocytic 1
Alias:
DEE5
NEAS
EIEE5
SPTA2
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Spectrins是一类作为基本骨架蛋白的丝状细胞骨架蛋白，它们稳定质膜并组织细胞内的细胞器。Spectrins由α和β二聚物组成，这些二聚物结合形成头部相互连接的头部-头部排列的四聚体。该基因编码一种特异性地在非红细胞细胞中表达的α-spectrin。已发现该基因在DNA修复和细胞周期调节等其他细胞功能中发挥作用。该基因的突变是导致早期婴儿癫痫性脑病-5的原因。交替剪接导致多个转录变异体。[RefSeq，2010年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SPTAN1 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
