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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
AGBL1 - AGBL Carboxypeptidase 1
Alias:
CCP4
FECD8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
多聚谷氨酰化是一种可逆的翻译后修饰,由多聚谷氨酰酶催化,导致修饰蛋白质上的谷氨酸侧链增加。这个基因编码一种谷氨酸脱羧酶,催化多聚谷氨酰化蛋白质的去谷氨酰化。这个基因的突变导致显性晚发的Fuchs角膜营养不良。[RefSeq, Nov 2013提供]
Related ID:
NCBI:123624
ENSEMBL:ENSG00000273540
HGNC:26504
UNIPROT:Q96MI9
OMIM:615496
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
123624
9
23
951857 bp
125.33
66
2
4
4
AGBL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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References Literature
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