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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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人类
GALNT3 - Polypeptide N-acetylgalactosaminyltransferase 3
Alias:
HHS
HFTC
HFTC1
GalNAc-T3
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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UDP-半乳糖胺转移酶3,是半乳糖胺转移酶家族的一员。这个家族在O-连接寡糖生物合成的第一步将一个N-乙酰半乳糖胺转移到丝氨酸或苏氨酸残基的羟基上。个别半乳糖胺转移酶具有不同的活性,O-糖基化启动是由一系列半乳糖胺转移酶调节的。这个基因编码的蛋白质与其他家族成员高度同源,然而酶具有不同的底物特异性。[由RefSeq提供,2008年7月]
Related ID:
NCBI:2591
ENSEMBL:ENSG00000115339
HGNC:4125
UNIPROT:Q14435
OMIM:601756
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2591
5
11
47105 bp
72.61
241
1
6
11
GALNT3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Related Mouse Models
Type
Name
MGI
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No data available
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CAS Number
Status
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Link
No data available
References Literature
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Journal
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IF
No Data Found!
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