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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
CHST15 - Carbohydrate Sulfotransferase 15
Alias:
BRAG
GALNAC4S-6ST
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
硫酸软骨素(CS)是一种糖胺聚糖,是细胞外基质的重要结构成分,并与蛋白质连接形成蛋白聚糖。硫酸软骨素E(CS-E)是硫酸软骨素的异构体,其中C-4和C-6羟基组被硫酸化。这个基因编码一个II型跨膜糖蛋白,作为硫酸转移酶将硫酸转移到硫酸软骨素的C-6羟醛基团上。这个基因也被鉴定为在B细胞中与RAG1共同表达,并可能作为B细胞表面信号受体发挥作用。可变剪接导致多个转录变异体,编码不同的异构体。[RefSeq,2012年7月提供]
Related ID:
NCBI:51363
ENSEMBL:ENSG00000182022
HGNC:18137
UNIPROT:Q7LFX5
OMIM:608277
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
51363
22
8
85931 bp
64.93
28
--
1
11
CHST15 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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