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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
NPL - N-acetylneuraminate Pyruvate Lyase
Alias:
NAL
C112
NPL1
C1orf13
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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N-乙酰神经氨酸酶亚家族的一员,该亚家族属于(beta/alpha)(8)桶状酶。N-乙酰神经氨酸酶通过介导可逆的神经酸转化为N-乙酰甘露糖胺和丙酮酸,从而调节细胞中N-乙酰-神经氨酸(唾液酸)的浓度。这个基因的假基因位于染色体2的短臂上。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[由RefSeq,2011年1月提供]
Related ID:
NCBI:80896
ENSEMBL:ENSG00000135838
HGNC:16781
UNIPROT:Q9BXD5
OMIM:611412
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
80896
5
13
40612 bp
35.16
16
--
5
7
NPL Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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