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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
WDR83 - WD Repeat Domain 83
Alias:
MORG1
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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WD-40蛋白家族的一员。该蛋白质被认为作为各种多聚蛋白质复合物的分子支架发挥作用。该蛋白质与细胞外信号调节激酶(ERK)途径的多个成分结合,并响应血清或其他信号促进ERK活性。该蛋白质还与EGLN3(也称为PHD3)相互作用并调节缺氧诱导因子1的表达,并且已经纯化为剪接体的一部分。可变剪接产生多个转录变异体。[由RefSeq,2009年10月提供]
Related ID:
NCBI:84292
ENSEMBL:ENSG00000123154
HGNC:32672
UNIPROT:Q9BRX9
OMIM:616850
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84292
2
11
9026 bp
34.34
28
--
2
3
WDR83 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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