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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
DTNA - Dystrobrevin Alpha
Alias:
DTN
DRP3
DTN-A
LVNC1
D18S892E
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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属于肌营养不良蛋白家族的肌原纤维蛋白亚家族。这个蛋白质是肌营养不良蛋白相关蛋白复合物(DPC)的组成部分,DPC由肌营养不良蛋白和几种整合膜蛋白以及周边膜蛋白组成,包括肌营养不良糖蛋白、肌质糖蛋白、合成素和α-和β-肌原纤维蛋白。DPC位于肌细胞膜处,其破坏与各种形式的肌肉营养不良有关。这个基因的突变与伴有先天性心脏缺陷的左心室非紧凑化有关。已经发现了这个基因的多个可变剪接转录变异体,它们编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1837
ENSEMBL:ENSG00000134769
HGNC:3057
UNIPROT:Q9Y4J8
OMIM:601239
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Related Mouse Models
Reference
1837
70
23
398533 bp
83.90
528
2
3
11
DTNA Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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