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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
TMC8 - Transmembrane Channel Like 8
Alias:
EV2
EVER2
EVIN2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
疣状皮肤病(EV)是一种常染色体隐性皮肤病,其特点是对人乳头瘤病毒(HPVs)的异常易感性,以及阳光照射皮肤向鳞状细胞癌发展的高速率。EV是由位于染色体17q25.3的两个相邻基因中的任何一个突变引起的。这两个基因编码定位在内质网并预测形成跨膜通道的整体膜蛋白。这个基因编码一个具有8个预测的跨膜结构和3个亮氨酸拉链模序的类似跨膜通道的蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:147138
ENSEMBL:ENSG00000167895
HGNC:20474
UNIPROT:Q8IU68
OMIM:605829
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
147138
1
16
12198 bp
81.64
516
2
6
8
TMC8 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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