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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
XPA - XPA, DNA Damage Recognition And Repair Factor
Alias:
XP1
XPAC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个锌指蛋白,在核苷酸切除修复(NER)中扮演重要角色,NER是修复紫外线辐射诱导的光产物和由化学致癌剂和化疗药物诱导的DNA加合物的一种特殊类型的DNA修复。编码的蛋白质与DNA和几种NER蛋白质相互作用,作为支架在DNA损伤部位组装NER切割复合物。这个基因的突变导致Xeroderma pigmentosum补充分组A(XP-A),这是一种常染色体隐性皮肤障碍,特点是阳光敏感性增加和皮肤癌风险增加。[RefSeq,2017年8月提供]
Related ID:
NCBI:7507
ENSEMBL:ENSG00000136936
HGNC:12814
UNIPROT:P23025
OMIM:611153
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7507
3
6
42943 bp
31.37
286
2
6
23
XPA 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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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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