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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
PGM5 - Phosphoglucomutase 5
Alias:
PGMRP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
磷酸葡萄糖酸酶(EC 5.2.2.2.),如PGM5,是参与葡萄糖-1-磷酸和葡萄糖-6-磷酸之间相互转换的磷酸转移酶。PGM活性在由葡萄糖-6-磷酸形成碳水化合物以及从半乳糖和糖原形成葡萄糖-6-磷酸方面是必需的(Edwards等人,1995年[PubMed 8586438])。[由OMIM于2008年3月提供]
Related ID:
NCBI:5239
ENSEMBL:ENSG00000154330
HGNC:8908
UNIPROT:Q15124
OMIM:600981
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5239
5
11
174451 bp
62.23
40
--
4
7
PGM5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
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Interactions
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Acting
Regulation
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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!
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