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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
DMXL1 - Dmx Like 1
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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WD重复蛋白质超家族的一员,具有调节功能。这个基因在许多组织类型中表达,包括几种眼组织类型,并且已经与眼表型有关。此外,在过度表达生长因子独立性1B的培养细胞中,该基因被上调,生长因子独立性1B是一种对造血细胞发育必不可少的转录因子。可变剪接导致多个转录变异体。[由RefSeq,2014年11月提供]
Related ID:
NCBI:1657
ENSEMBL:ENSG00000172869
HGNC:2937
UNIPROT:Q9Y485
OMIM:605671
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1657
23
44
178101 bp
337.84
143
--
3
12
DMXL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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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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References Literature
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