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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
NAT8L - N-acetyltransferase 8 Like
Alias:
CML3
NACED
NAT8-LIKE
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个单跨膜蛋白,它包含一个保守的GCN5或NAT家族N-乙酰转移酶序列,是N-酰基转移酶(NAT)超家族的成员。这个蛋白是神经元特异性的蛋白,是N-乙酰天冬氨酸(NAA)的生物合成酶,催化NAA从L-天冬氨酸和乙酰辅酶A合成。NAA是神经系统特异性的乙酰辅酶A的主要储存和运输形式。基因突变导致原发性NAA缺乏(低乙酰天冬氨酸症)。[RefSeq提供,2010年12月]
Related ID:
NCBI:339983
ENSEMBL:ENSG00000185818
HGNC:26742
UNIPROT:Q8N9F0
OMIM:610647
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
339983
1
3
9763 bp
32.84
31
1
6
8
NAT8L Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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Interactions
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Type
Name
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Link
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References Literature
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