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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
DHCR24 - 24-dehydrocholesterol Reductase
Alias:
DCE
SELADIN1
Nbla03646
seladin-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
该基因编码一种依赖黄素腺嘌呤二核苷酸(FAD)的氧化还原酶,在胆固醇生物合成过程中催化甾醇中间体的delta-24双键的还原。该蛋白质含有一个引导序列,将其导向内质网膜。该基因的错义突变与脱湿醇病有关。此外,在阿尔茨海默病患者的大脑皮层中,该基因的表达降低,而在肾上腺肿瘤细胞中,其过表达已被观察到。[RefSeq,2008年7月提供]
Related ID:
NCBI:1718
ENSEMBL:ENSG00000116133
HGNC:2859
UNIPROT:Q15392
OMIM:606418
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1718
1
9
37569 bp
60.10
273
2
5
13
DHCR24 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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No data available
* This data comes from NCBI.
Gene Expression
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No data available
References Literature
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No Data Found!
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