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中文人类
ERLIN1 - ER Lipid Raft Associated 1
Alias:
KE04
KEO4
SPFH1
SPG62
Erlin-1
C10orf69
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这个基因编码的蛋白质是蛋白质复合体的一部分，该复合体在内质网中调节肌醇1,4,5-三磷酸酯受体的降解。编码的蛋白质还可以与胆固醇结合，并调节SREBP信号传导途径，该途径促进细胞内胆固醇的稳态。这个基因的缺陷与痉挛性截瘫62有关。[由RefSeq提供，2016年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ERLIN1 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
