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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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人类
SDR16C5 - Short Chain Dehydrogenase/reductase Family 16C Member 5
Alias:
RDH#2
RDHE2
EPHD-2
RDH-E2
retSDR2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码短链酒精脱氢酶/还原酶超家族蛋白质的一员,并参与视黄醇氧化成视黄醛的过程。编码的蛋白质与内质网相关,预测含有三个跨膜螺旋,表明它是一个整合膜蛋白。它可以识别全反式视黄醇和全反式视黄醛作为底物,并优先选择NAD(+)/NADH作为辅因子。可变剪接导致多个转录变异体。[RefSeq,2015年12月提供]
Related ID:
NCBI:195814
ENSEMBL:ENSG00000170786
HGNC:30311
UNIPROT:Q8N3Y7
OMIM:608989
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
195814
3
7
20171 bp
34.09
15
--
3
7
SDR16C5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Type
Name
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CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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