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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
STARD6 - StAR Related Lipid Transfer Domain Containing 6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
胆固醇平衡至少部分受到固醇调节因子(SRE)结合蛋白(如SREBP1;MIM 184756)和肝脏X受体(如LXRA;MIM 602423)的调节。在固醇缺乏时,LXRs处于非活性状态,SREBPs被切割,然后它们结合启动子SREs并激活涉及胆固醇生物合成和摄取的基因。固醇的运输是通过囊泡或通过可溶的蛋白质载体(如类固醇急性调节蛋白,STAR;MIM 600617)进行的。STAR与一个包含200-210个氨基酸的STAR相关脂质转运(START)结构域的蛋白质家族同源,包括STARD6(Soccio等人,2002年[PubMed 12011452])。[由OMIM于2008年3月提供]
Related ID:
NCBI:147323
ENSEMBL:ENSG00000174448
HGNC:18066
UNIPROT:P59095
OMIM:607051
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
147323
5
8
33367 bp
25.02
11
--
3
1
STARD6 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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