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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
RLIM - Ring Finger Protein, LIM Domain Interacting
Alias:
MRX61
RNF12
TOKAS
NY-REN-43
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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是一种RING-H2锌指蛋白。已经证明它是一个E3泛素蛋白连接酶,可以靶向LIM结构域结合1(LDB1/CLIM),并导致LDB1的蛋白酶体依赖性降解。这种蛋白质和LDB1是LHX1/LIM-1,一个同源域转录因子的共同抑制子。已经发现了多种可变剪接变异体,它们编码相同的蛋白质。[由RefSeq,2009年2月提供]
Related ID:
NCBI:51132
ENSEMBL:ENSG00000131263
HGNC:13429
UNIPROT:Q9NVW2
OMIM:300379
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51132
2
4
31649 bp
68.55
88
2
7
14
RLIM 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
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Name
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Status
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References Literature
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