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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
SCP2 - Sterol Carrier Protein 2
Alias:
NLTP
SCOX
SCPX
SCP-2
SCP-X
NSL-TP
SCP-CHI
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码两种蛋白质:固醇载体蛋白X(SCPx)和固醇载体蛋白2(SCP2),这是由于从2个独立调控的启动子开始的转录。近端启动子启动的转录编码较长的SCPx蛋白,而远端启动子启动的转录编码较短的SCP2蛋白,两种蛋白质共享一个共同的C端。研究表明,SCPx蛋白是一种与过氧化物酶体相关的硫解酶,参与分支链脂肪酸的氧化,而SCP2蛋白被认为是一种细胞内脂质转移蛋白。这个基因在参与脂质代谢的器官中高度表达,可能参与Zellweger综合征,其中细胞中过氧化物酶体缺乏且胆汁酸合成受损。这个基因的可变剪接产生了多种转录变异体,一些编码不同的异构体。[RefSeq,2010年8月提供]
Related ID:
NCBI:6342
ENSEMBL:ENSG00000116171
HGNC:10606
UNIPROT:P22307
OMIM:184755
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6342
15
16
124423 bp
58.99
378
1
5
19
SCP2 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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