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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
LPP - LIM Domain Containing Preferred Translocation Partner In Lipoma
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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LIM结构域蛋白亚家族的成员,其特点是N端富含脯氨酸的区域和三个C端的LIM结构域。编码的蛋白质定位在细胞周缘的粘附斑中,可能参与细胞间粘附和细胞迁移。这个蛋白质也在细胞核中穿梭,可能作为转录共激活因子发挥作用。这个基因位于某些疾病相关染色体易位的连接处,导致表达可能促进肿瘤生长的嵌合蛋白。可选的剪接导致多个转录变异体。[由RefSeq,2014年7月提供]
Related ID:
NCBI:4026
ENSEMBL:ENSG00000145012
HGNC:6679
UNIPROT:Q93052
OMIM:600700
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4026
58
12
737651 bp
65.75
84
1
5
19
LPP Genetics information (+)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
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