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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
PINK1 - PTEN Induced Kinase 1
Alias:
BRPK
PARK6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种定位在线粒体的丝氨酸/苏氨酸蛋白激酶。它被认为能保护细胞免受压力诱导的线粒体功能障碍。这个基因的突变会导致一种常染色体隐性早发型帕金森病。[由RefSeq在2008年7月提供]
Related ID:
NCBI:65018
ENSEMBL:ENSG00000158828
HGNC:14581
UNIPROT:Q9BXM7
OMIM:608309
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
65018
1
8
18054 bp
62.77
366
2
17
56
PINK1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-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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