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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
COLGALT1 - Collagen Beta(1-O)galactosyltransferase 1
Alias:
BSVD3
GLT25D1
ColGalT 1
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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两种将半乳糖片段转移到胶原和甘露糖结合凝集素的羟赖氨酸残基的酶之一。这个基因是组成性表达的,并编码一种定位到内质网的可溶蛋白质。[RefSeq,2015年12月提供]
Related ID:
NCBI:79709
ENSEMBL:ENSG00000130309
HGNC:26182
UNIPROT:Q8NBJ5
OMIM:617531
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79709
4
12
27509 bp
71.64
160
1
3
11
COLGALT1 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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Name
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Status
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Link
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References Literature
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No Data Found!
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