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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
MARCHF2 - Membrane Associated Ring-CH-type Finger 2
Alias:
MARCH2
RNF172
HSPC240
MARCH-II
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
MARCH2是膜结合E3泛素连接酶MARCH家族的成员(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区室之间的囊泡运输。MARCH2降低几种糖蛋白的表面积累,并似乎调节早期内质网到高尔基网(TGN)的运输(Bartee等人,2004[PubMed 14722266];Nakamura等人,2005[PubMed 15689499])。[由OMIM在2010年3月提供]
Related ID:
NCBI:51257
ENSEMBL:ENSG00000099785
HGNC:28038
UNIPROT:Q9P0N8
OMIM:613332
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51257
7
5
25713 bp
27.00
10
--
5
12
MARCHF2 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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