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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
HMGCR - 3-hydroxy-3-methylglutaryl-CoA Reductase
Alias:
LDLCQ3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
羟甲基戊酸还原酶是胆固醇合成过程中的限速酶,其通过固醇和非固醇代谢产物介导的负反馈机制进行调节,这些代谢产物来自还原酶催化反应的产物甲羟戊酸。在哺乳动物细胞中,该酶通常受到来自低密度脂蛋白(LDL)内化和降解产生的胆固醇的抑制,这个过程是通过LDL受体实现的。还原酶的竞争性抑制剂可以诱导肝脏中LDL受体的表达,从而增加血浆LDL的分解代谢并降低胆固醇的血浆浓度,这是动脉粥样硬化的重要决定因素。已发现该基因存在编码不同异构体的可变剪接转录变异体。[RefSeq,2008年8月提供]
Related ID:
NCBI:3156
ENSEMBL:ENSG00000113161
HGNC:5006
UNIPROT:P04035
OMIM:142910
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3156
6
20
25588 bp
97.48
25
3
11
24
HMGCR 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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