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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
SAMD4A - Sterile Alpha Motif Domain Containing 4A
Alias:
SMG
SMGA
SAMD4
SMAUG
SMAUG1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
蛋白质中的无菌α结构域(SAMs),如SAMD4A,是RNA结合结构域的一部分,该结构域通过结合称为Smaug识别元素的RNA序列模式,在转录后起调节作用,该元素是以果蝇Smaug蛋白命名的(Baez和Boccaccio,2005年[PubMed 16221671])。[由OMIM于2008年3月提供]
Related ID:
NCBI:23034
ENSEMBL:ENSG00000020577
HGNC:23023
UNIPROT:Q9UPU9
OMIM:610747
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23034
17
13
228000 bp
79.42
15
--
5
8
SAMD4A 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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References Literature
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