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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
GALNT12 - Polypeptide N-acetylgalactosaminyltransferase 12
Alias:
CRCS1
GalNAc-T12
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个UDP-GalNAc:多肽N-乙酰半乳糖胺转移酶家族成员,在O-连接蛋白质糖基化的初始步骤中,催化UDP-GalNAc上的N-乙酰半乳糖胺(GalNAc)转移到多肽受体上的丝氨酸或苏氨酸残基。这个基因的突变与增加患结肠癌的风险相关。[RefSeq提供,2011年3月]
Related ID:
NCBI:79695
ENSEMBL:ENSG00000119514
HGNC:19877
UNIPROT:Q8IXK2
OMIM:610290
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79695
6
10
42412 bp
66.94
1254
1
5
7
GALNT12 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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