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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
ST6GALNAC1 - ST6 N-acetylgalactosaminide Alpha-2,6-sialyltransferase 1
Alias:
STYI
SIAT7A
HSY11339
ST6GalNAcI
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
蛋白质的糖基化影响细胞间相互作用,与基质的相互作用以及细胞内分子的功能。ST6GALNAC1以α-2,6连接将唾液酸N-乙酰神经氨酸(NeuAc)转移到O-连接的GalNAc残基上。癌症相关的唾液酸-Tn(sTn)抗原是由ST6GALNAC1催化粘蛋白上GalNAc残基的唾液酸化形成的(Ikehara等人,1999年[PubMed 10536037]; Sewell等人,2006年[PubMed 16319059])。[由OMIM于2008年3月提供]
Related ID:
NCBI:55808
ENSEMBL:ENSG00000070526
HGNC:23614
UNIPROT:Q9NSC7
OMIM:610138
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
55808
5
9
26351 bp
68.56
26
--
2
5
ST6GALNAC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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