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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
WDR12 - WD Repeat Domain 12
Alias:
YTM1
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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重复蛋白家族的一员。WD重复是约40个氨基酸的最小保守区域,通常由gly-his和trp-asp(GH-WD)括起来,这可能有助于形成异源三聚体或多蛋白复合物。这个家族的成员参与各种细胞过程,包括细胞周期进展、信号传导、凋亡和基因调控。这个蛋白质在氨基酸水平上与小鼠WD重复结构域12蛋白质高度相似。这个基因编码的蛋白质是核仁蛋白质复合物的组成部分,影响大型核糖体亚基的成熟。[由RefSeq提供,2008年12月]
Related ID:
NCBI:55759
ENSEMBL:ENSG00000138442
HGNC:14098
UNIPROT:Q9GZL7
OMIM:616620
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55759
2
13
37413 bp
47.71
17
--
3
14
WDR12 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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IF
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