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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
PAXX - PAXX Non-homologous End Joining Factor
Alias:
XLS
C9orf142
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质在DNA双链断裂修复的非同源末端连接(NHEJ)途径中发挥作用。编码的蛋白质可能有助于稳定Ku70/Ku80异源二聚体,从而促进NHEJ复合物的组装并维持其稳定性。[由RefSeq提供,2016年7月]
Related ID:
NCBI:286257
ENSEMBL:ENSG00000148362
HGNC:27849
UNIPROT:Q9BUH6
OMIM:616315
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
286257
2
7
1555 bp
21.64
--
--
7
21
PAXX Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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Link
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References Literature
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