PGM1
Sign in to saveAlso known as CDG1T, GSD14, phosphoglucomutase 1
Phosphoglucomutase-1 is an enzyme that in humans is encoded by the PGM1 gene. The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red blood cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause CDG syndrome type 1t (CDG1T, formerly known
Gene data
PGM1- Name
- phosphoglucomutase 1
- Type
- protein-coding
- Position
- 63,593,241–63,660,245 (+)
- Aliases
- CDG1T, GSD14
- Ensembl
- ENSG00000079739
- RefSeq RNA
- NM_001172818.1, NM_001172819.2, NM_002633.3
- RefSeq protein
- NP_001166289.1, NP_001166290.1, NP_002624.2
The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
phosphoglucomutase 1
- Symbol
- PGM1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:63,593,151-63,660,245
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein PGM1 PDB 1c47.png
Show 5 more facts
- exact match
- identifiers.org/ncbigene/5236
- HomoloGene ID
- 1979
- genomic start
- 63593411
- genomic end
- 64125916
- cytogenetic location
- 1p31.3
via Wikidata · CC0
~5 min read
Article
6 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- References
- Further reading
Phosphoglucomutase-1 is an enzyme that in humans is encoded by the PGM1 gene. The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red blood cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause CDG syndrome type 1t (CDG1T, formerly known as glycogen storage disease type XIV). Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
==Structure==