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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
ATP8B1 - ATPase Phospholipid Transporting 8B1
Alias:
BRIC
FIC1
ICP1
PFIC
ATPIC
PFIC1
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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P型阳离子转运ATP酶家族的成员,属于氨基磷脂酰胆碱转运ATP酶亚家族。氨基磷脂酰胆碱转运蛋白将磷脂酰丝氨酸和磷脂酰乙醇胺从单层的一侧传输到另一侧。这个基因的突变可能导致进行性家族性肝内胆汁淤积1型以及良性复发性肝内胆汁淤积。[RefSeq,2008年7月提供]
Related ID:
NCBI:5205
ENSEMBL:ENSG00000081923
HGNC:3706
UNIPROT:O43520
OMIM:602397
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5205
12
28
156890 bp
143.69
517
5
3
22
ATP8B1 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
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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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