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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
B4GALNT1 - Beta-1,4-N-acetyl-galactosaminyltransferase 1
Alias:
GALGT
SPG26
GALNACT
GalNAc-T
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
GM2和GD2神经节苷脂是含有唾液酸的糖鞘脂。GalNAc-T是参与G(M2)和G(D2)糖鞘脂生物合成的酶。GalNAc-T通过β-1,4键将GalNAc转移到G(M3)和G(D3)中,从而分别合成G(M2)和G(D2)。已发现此基因编码不同异构体的三种转录变体。[RefSeq提供,2013年2月]
Related ID:
NCBI:2583
ENSEMBL:ENSG00000135454
HGNC:4117
UNIPROT:Q00973
OMIM:601873
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2583
25
11
9793 bp
58.88
281
1
4
9
B4GALNT1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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