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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
MARVELD2 - MARVEL Domain Containing 2
Alias:
Tric
DFNB49
MARVD2
MRVLDC2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种在上皮细胞紧密连接处发现的膜蛋白。编码的蛋白质有助于建立上皮屏障,如Corti器官中的屏障,这些屏障对于正常听力是必需的。这个基因的缺陷是49型(DFNB49)常染色体隐性耳聋的一个原因。已经发现这个基因有两个转录变异体,编码不同的异构体。[由RefSeq,2011年9月提供]
Related ID:
NCBI:153562
ENSEMBL:ENSG00000152939
HGNC:26401
UNIPROT:Q8N4S9
OMIM:610572
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
153562
5
7
29215 bp
64.17
171
4
5
11
MARVELD2 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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