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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
MYO7A - Myosin VIIA
Alias:
DFNB2
MYU7A
NSRD2
USH1B
DFNA11
MYOVIIA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是肌球蛋白基因家族的成员。肌球蛋白是以具有马达结构域、与肌动蛋白结合的结构域、与其它蛋白质相互作用的颈结构域和作为锚定的尾结构域为特征的机械化学蛋白质。这个基因编码一个具有非常短尾的非典型肌球蛋白。这个基因的缺陷与小鼠shaker-1表型和人Usher综合症1B相关,其特征是耳聋、前庭功能降低(在人类中)和视网膜变性。可变剪接导致多个转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4647
ENSEMBL:ENSG00000137474
HGNC:7606
UNIPROT:Q13402
OMIM:276903
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4647
22
49
86996 bp
254.39
3571
15
25
42
MYO7A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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