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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
G6PC3 - Glucose-6-phosphatase Catalytic Subunit 3
Alias:
SCN4
UGRP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码葡萄糖-6-磷酸酶(G6Pase)的催化亚基。G6Pase位于内质网(ER)中,在糖异生和糖酵解途径的最后一步中催化葡萄糖-6-磷酸的水解为葡萄糖和磷酸根。这个基因的突变导致常染色体隐性遗传的严重先天性中性粒细胞减少症。替代剪接产生了多个转录变异体。[RefSeq,2016年2月提供]
Related ID:
NCBI:92579
ENSEMBL:ENSG00000141349
HGNC:24861
UNIPROT:Q9BUM1
OMIM:611045
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
92579
7
6
5672 bp
38.73
250
2
4
19
G6PC3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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