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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
OSBPL8 - Oxysterol Binding Protein Like 8
Alias:
ORP8
MST120
OSBP10
MSTP120
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个蛋白质家族成员,该家族成员含有N端的pleckstrin同源结构域和高度保守的C端氧化固醇结合蛋白样固醇结合结构域。它可以结合多种含有脂质的分子,包括磷脂酰丝氨酸、磷脂酰肌醇4-磷酸(PI4P)和氧化固醇,并促进它们在内质网和质膜之间交换。可变剪接导致多个转录变异体。[RefSeq提供,2016年2月]
Related ID:
NCBI:114882
ENSEMBL:ENSG00000091039
HGNC:16396
UNIPROT:Q9BZF1
OMIM:606736
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
114882
20
24
207975 bp
101.20
19
1
4
24
OSBPL8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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