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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
GALNT7 - Polypeptide N-acetylgalactosaminyltransferase 7
Alias:
GalNAcT7
GALNAC-T7
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因编码GalNAc转移酶7,是GalNAc转移酶家族的成员。这个基因编码的酶控制粘蛋白型O连接的蛋白质糖基化的起始步骤,以及将N-乙酰半乳糖胺转移到丝氨酸和苏氨酸氨基酸残基上。这个酶是一种II型跨膜蛋白,与其他家族成员共享常见的序列基序。与其他家族成员不同,这个酶显示对部分GalNAc糖基化的受体底物的专属性,并且对非糖基化肽没有活性。这个蛋白可能在O糖基化起始步骤中作为后续酶发挥作用。[由RefSeq,2008年7月提供]
Related ID:
NCBI:51809
ENSEMBL:ENSG00000109586
HGNC:4129
UNIPROT:Q86SF2
OMIM:605005
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Related Mouse Models
Reference
51809
11
12
155157 bp
75.39
20
--
2
5
GALNT7 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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