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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
H6PD - Hexose-6-phosphate Dehydrogenase/glucose 1-dehydrogenase
Alias:
GDH
G6PDH
H6PDH
CORTRD1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
有两种形式的葡萄糖-6-磷酸脱氢酶。G形式是X连锁的,H形式,由这个基因编码,是常染色体连锁的。这种H形式对其他六碳糖-6-磷酸,特别是半乳糖-6-磷酸,表现出活性,而G形式对葡萄糖-6-磷酸是特异的。这两种形式在大多数组织中都存在,但H形式在红细胞中不存在。[由RefSeq提供,2008年7月]
Related ID:
NCBI:9563
ENSEMBL:ENSG00000049239
HGNC:4795
UNIPROT:O95479
OMIM:138090
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9563
9
5
36564 bp
88.89
170
2
7
10
H6PD 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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Name
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