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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
MARCHF8 - Membrane Associated Ring-CH-type Finger 8
Alias:
MIR
CMIR
c-MIR
MARCH8
RNF178
MARCH-VIII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
MARCH8是膜结合E3泛素连接酶MARCH家族的一员(EC 6.3.2.19)。MARCH酶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运输。MARCH8诱导几种膜糖蛋白的内化(Goto等人,2003年[PubMed 12582153];Bartee等人,2004年[PubMed 14722266])。由OMIM于2010年4月提供。
Related ID:
NCBI:220972
ENSEMBL:ENSG00000165406
HGNC:23356
UNIPROT:Q5T0T0
OMIM:613335
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
220972
14
8
140323 bp
32.97
--
--
6
16
MARCHF8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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