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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
FPGS - Folylpolyglutamate Synthase
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码叶酸聚谷氨酰胺合成酶酶。这种酶在建立和维护胞浆和线粒体叶酸聚谷氨酰胺浓度方面具有重要作用,因此对叶酸稳态和增殖细胞生存至关重要。这种酶催化ATP依赖性将谷氨酰胺结构添加到叶酸和叶酸衍生物中。替代剪接导致编码不同异构体的转录变异体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:2356
ENSEMBL:ENSG00000136877
HGNC:3824
UNIPROT:Q05932
OMIM:136510
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2356
6
15
11649 bp
64.61
17
--
7
16
FPGS Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Acting
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Related Mouse Models
Type
Name
MGI
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Mutations
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References Literature
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