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中文人类
AP5Z1 - Adaptor Related Protein Complex 5 Subunit Zeta 1
Alias:
zeta
SPG48
KIAA0415
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这个基因是通过全基因组筛选发现的，参与同源重组DNA双链断裂修复（HR-DSBR）的基因。编码的蛋白质与其他在HR-DSBR中起作用的蛋白质形成复合物。这个基因的敲减降低了同源重组的能力，并且在患有痉挛性偏瘫的患者中发现这个基因的突变。结论是，这个基因可能编码一个解旋酶（PMID:20613862）。[由RefSeq，2011年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AP5Z1 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
