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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
DVL1 - Dishevelled Segment Polarity Protein 1
Alias:
DVL
DRS2
DVL1L1
DVL1P1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
DVL1是果蝇的dishevelled基因(dsh)的人类同源基因,编码一种调节细胞增殖的胞质磷酸蛋白,作为发育过程(包括分节和神经母细胞特化)的转导分子。DVL1是神经母细胞瘤转化的候选基因。Schwartz-Jampel综合征和Charcot-Marie-Tooth病2A已被定位到与DVL1相同的区域。这些疾病的表型可能与发育过程中DVL基因异常表达可能预期的缺陷一致。[由RefSeq提供,2008年7月]
Related ID:
NCBI:1855
ENSEMBL:ENSG00000107404
HGNC:3084
UNIPROT:O14640
OMIM:601365
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1855
5
15
14141 bp
75.19
504
4
1
13
DVL1 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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