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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
WDR33 - WD Repeat Domain 33
Alias:
NET14
WDC146
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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 重复蛋白质家族的一个成员。WD 重复是大约 40 个氨基酸的最小保守区域,通常由 Gly-His 和 Trp-Asp (GH-WD) 包围,这可能有助于形成三聚体或多蛋白质复合物。这个家族的成员参与各种细胞过程,包括细胞周期进展、信号转导、凋亡和基因调节。这个基因在睾丸中高度表达,蛋白质定位在细胞核中。这个基因可能在细胞分化和/或 DNA 重组的机制中发挥重要作用。这个基因发现了多个编码不同异构体的可变剪接转录变体。[由 RefSeq 提供,2008 年 7 月]
Related ID:
NCBI:55339
ENSEMBL:ENSG00000136709
HGNC:25651
UNIPROT:Q9C0J8
OMIM:618082
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55339
6
22
110145 bp
145.89
53
--
5
18
WDR33 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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