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中文人类
ATP7B - ATPase Copper Transporting Beta
Alias:
WD
PWD
WC1
WND
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这个基因是P型阳离子转运ATP酶家族的成员，编码一个具有几个跨膜结构域、ATP酶共识序列、铰链结构域、磷酸化位点和至少两个推测的铜结合位点的蛋白质。这个蛋白质是一个单体，作为将铜从细胞中排出体外的铜转运ATP酶发挥作用，例如将肝铜排入胆汁。交替的转录剪接变体已经被表征，编码具有不同细胞定位的不同异构体。这个基因的突变与威尔逊病有关，其特点是铜积累。[RefSeq,2019年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ATP7B 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
