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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
PRPSAP2 - Phosphoribosyl Pyrophosphate Synthetase Associated Protein 2
Alias:
PAP41
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与磷酸核糖焦磷酸合成酶(PRS)相关的蛋白质。PRS催化磷酸核糖焦磷酸的形成,后者是嘌呤和嘧啶核苷酸、组氨酸、色氨酸和NAD合成的底物。PRS以与两个催化亚基和两个相关亚基的复合物的形式存在。这个基因编码PRS的一个非催化相关亚基。交替剪接导致多个转录变异体。[RefSeq,2011年9月提供]
Related ID:
NCBI:5636
ENSEMBL:ENSG00000141127
HGNC:9467
UNIPROT:O60256
OMIM:603762
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5636
20
12
74989 bp
40.93
1
--
3
13
PRPSAP2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
No data available
References Literature
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