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中文人类
NMNAT1 - Nicotinamide Nucleotide Adenylyltransferase 1
Alias:
LCA9
NMNAT
PNAT1
SHILCA
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这个基因编码一种酶，这种酶催化烟酰胺腺嘌呤二核苷酸（NAD）生物合成中的关键步骤。编码的酶是几种烟酰胺核苷酸腺苷转移酶之一，特异性地定位在细胞核中。这种蛋白质的活性导致核内去乙酰化酶的激活，该酶在保护受损神经元中发挥作用。这种基因的突变与Leber先天性黑蒙症9有关。这种基因的可变剪接导致多种转录变体。这种基因的假基因位于1、3、4、14和15号染色体上。[由RefSeq提供，2014年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NMNAT1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
