人类

G6PD - Glucose-6-phosphate Dehydrogenase

Alias:
G6PD1
Favorite
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-磷酸脱氢酶。这种蛋白质是一种胞质酶,由维持生命功能的X染色体编码,其主要功能是产生NADPH,这是一种在抵抗氧化剂和还原性生物合成反应中作为关键电子供体的关键物质。G6PD因其遗传多样性而显著。已经描述了许多G6PD的变异体,大部分是由错义突变产生的,具有广泛的酶活性和相关临床症状水平。G6PD缺乏可能导致新生儿黄疸、急性溶血或严重的慢性非球形细胞溶血性贫血。已经发现这个基因的两个转录变异体编码不同的异构体。[由RefSeq,2008年7月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3
13
16180 bp
59.26
578
5
8
56

G6PD Genetics information (-)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.

Gene Expression

Tissue-specific RNA expression

Organ
Abundance
Alphabetical

Cell-specific RNA expression

Organ
Abundance
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Tutorials
Back to top