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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
MEGF10 - Multiple EGF Like Domains 10
Alias:
SR-F3
EMARDD
CMYP10A
CMYP10B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个多表皮生长因子样结构域蛋白家族的成员。编码的蛋白质在细胞粘附、运动和增殖中发挥作用,并作为凋亡细胞吞噬和脑中淀粉样β肽摄取的关键中介物。这个基因的表达可能与精神分裂症有关,而这个基因的突变是导致早期发病的肌肉无力和肌无力、呼吸窘迫和吞咽困难(EMARDD)以及先天性肌病伴有小核仁的原因。已经观察到了这个基因的可变剪接转录变异体。[由RefSeq,2012年4月提供]
Related ID:
NCBI:84466
ENSEMBL:ENSG00000145794
HGNC:29634
UNIPROT:Q96KG7
OMIM:612453
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84466
7
25
231923 bp
122.20
941
2
7
15
MEGF10 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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