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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
CHST6 - Carbohydrate Sulfotransferase 6
Alias:
MCDC1
gn6st-5
hCGn6ST
GST4-beta
C-GlcNAc6ST
glcNAc6ST-5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种催化硫酸基团转移到角蛋白的GlcNAc残基上的酶。角蛋白硫酸酯有助于维持角膜透明度。这个基因的缺陷是斑状角膜营养不良(MCD)的一个原因。[RefSeq,2010年1月提供]
Related ID:
NCBI:4166
ENSEMBL:ENSG00000183196
HGNC:6938
UNIPROT:Q9GZX3
OMIM:605294
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4166
1
3
23400 bp
44.10
274
1
5
22
CHST6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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