Log In|Sign Up
中文人类
SYNE1 - Spectrin Repeat Containing Nuclear Envelope Protein 1
Alias:
8B
AMC3
AMCM
CPG2
ARCA1
EDMD4
KASH1
MYNE1
Nesp1
SCAR8
C6orf98
dJ45H2.2
Favorite
该基因编码一种含spectrin重复序列的蛋白质，在骨骼和平滑肌以及外周血淋巴细胞中表达，定位在核膜上。该基因的突变与常染色体隐性脊髓小脑共济失调8型有关，也称为常染色体隐性小脑性共济失调1型或Beauce隐性共济失调。已经描述了编码不同异构体的可变剪接转录本。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SYNE1 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
