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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
MARCHF7 - Membrane Associated Ring-CH-type Finger 7
Alias:
AXO
AXOT
MARCH7
RNF177
MARCH-VII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
MARCH7是膜结合E3泛素连接酶MARCH家族的成员(EC6.3.2.19)。MARCH蛋白将泛素添加到底物蛋白质的靶定赖氨酸上,从而信号传递其在内质网膜间室中的囊泡运输(Bartee等人,2004年[PubMed14722266])。[由OMIM在2010年3月提供]
Related ID:
NCBI:64844
ENSEMBL:ENSG00000136536
HGNC:17393
UNIPROT:Q9H992
OMIM:613334
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64844
46
12
58522 bp
78.05
13
--
3
12
MARCHF7 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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