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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
NANS - N-acetylneuraminate Synthase
Alias:
SAS
SEMDG
SEMDCG
HEL-S-100
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种酶,在唾液酸的生物合成途径中发挥作用。在体外,编码的蛋白质使用N-乙酰甘露糖胺-6-磷酸和甘露糖-6-磷酸作为底物,分别生成N-乙酰神经氨酸(Neu5Ac)和2-酮-3-脱氧-D-甘油-D-半乳糖-非核糖酸(KDN)的磷酸化形式;然而,它表现出对Neu5Ac磷酸化产物的更高活性。在昆虫细胞中,表达这个基因导致Neu5Ac和KDN的产生。这个基因与大肠杆菌唾液酸合成酶基因neuB有关,并且可以部分恢复大肠杆菌neuB阴性突变体中的唾液酸合成酶活性。[由RefSeq,2008年7月提供]
Related ID:
NCBI:54187
ENSEMBL:ENSG00000095380
HGNC:19237
UNIPROT:Q9NR45
OMIM:605202
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54187
4
6
26346 bp
40.31
138
1
4
10
NANS Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Type
Name
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Status
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Link
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References Literature
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