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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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人类
TOM1L2 - Target Of Myb1 Like 2 Membrane Trafficking Protein
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于一个小基因家族,其成员具有N端VHS结构域,后面跟着一个GAT结构域;这些结构域通常参与囊泡运输。这个基因编码的典型蛋白质还具有C端的氯素结合基序。这个蛋白质已经显示与Tollip、氯素和泛素相互作用,被认为在内质网分类中起作用。这个基因位于与Smith-Magenis综合征相关的染色体区域17p11.2的3.7 Mb缺失中。替代剪接产生了多种转录变异体,编码不同的蛋白质。[RefSeq,2017年4月提供]
Related ID:
NCBI:146691
ENSEMBL:ENSG00000175662
HGNC:11984
UNIPROT:Q6ZVM7
OMIM:615519
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
146691
17
15
128890 bp
55.56
20
--
3
10
TOM1L2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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