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中文人类
PUS1 - Pseudouridine Synthase 1
Alias:
MLASA1
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这个基因编码一个伪尿苷合成酶，一旦被整合到RNA分子中，就将尿苷转化为伪尿苷。编码的酶可能在tRNA功能和稳定许多RNA的二级和三级结构中扮演重要角色。这个基因的突变与线粒体肌病和铁粒幼细胞贫血有关。交替剪接导致多个转录变异体。[由RefSeq，2009年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PUS1 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
