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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PMM1
phosphomannomutase 1
Chromosome 22 Β· 22q13.2
NCBI Gene: 5372Ensembl: ENSG00000100417.13HGNC: HGNC:9114UniProt: Q92871
33PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolprotein bindingmannose metabolic processphosphomannomutase activityglobal developmental delay, absent or hypoplastic corpus callosum, and dysmorphic faciespoisoningintelligencenephrolithiasis
✦AI Summary

PMM1 (phosphomannomutase 1) is a cytosolic enzyme that catalyzes the reversible conversion of mannose 6-phosphate to mannose 1-phosphate 1, playing a critical role in GDP-mannose and dolichol-phosphate-mannose synthesis required for protein N-linked glycosylation 2. The enzyme is a 262-amino acid protein with ~29 kDa molecular mass 2 and forms a phosphoaspartyl intermediate during catalysis 3. PMM1 is distinct from the related isozyme PMM2, which is encoded on chromosome 22; PMM1 itself maps to chromosome 22 4. Tissue expression analysis reveals particularly high expression in brain tissue compared to PMM2 1, though both isoforms show overlapping brain distribution 5. PMM1 also possesses a secondary degradative function for glucose-1,6-bisphosphate in the brain under IMP influence 6. While mutations in PMM2 cause congenital disorders of glycosylation type Ia (CDG-Ia), no disease has been definitively associated with PMM1 deficiency 4. Recent evidence suggests PMM1 may have additional substrate specificity or functions beyond phosphomannomutase activity in vivo 5. PMM1 serves as a reliable housekeeping gene reference for gene expression studies in hepatic tissue 7.

Sources cited
1
PMM1 catalyzes reversible conversion of mannose 6-phosphate to mannose 1-phosphate and shows high brain expression
PMID: 11404002
2
PMM1 is human homologue of yeast phosphomannomutase, 262 amino acids, ~29 kDa, located on chromosome 22q13
PMID: 9070917
3
PMM1 forms phosphoaspartyl intermediate and has specific kinetic properties distinct from liver isozyme
PMID: 9271215
4
PMM1 and PMM2 are distinct genes on chromosomes 22 and 16; only PMM2 mutations cause CDG-Ia
PMID: 9425221
5
PMM1 and PMM2 show overlapping brain expression but PMM1 may have non-phosphomannomutase functions in vivo
PMID: 16115222
6
PMM1 degrades glucose-1,6-bisphosphate in brain under IMP influence; relevant to CDG pathogenesis
PMID: 40169095
7
PMM1 is recommended as reference housekeeping gene for hepatic gene expression studies
PMID: 18591914
Disease Associationsβ“˜20
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic faciesOpen Targets
0.26Weak
poisoningOpen Targets
0.04Suggestive
intelligenceOpen Targets
0.04Suggestive
nephrolithiasisOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.03Suggestive
morbid obesityOpen Targets
0.03Suggestive
obesityOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
autism spectrum disorderOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
overnutritionOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
rectal neoplasmOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
chronic hepatitisOpen Targets
0.01Suggestive
chronic hepatitis C virus infectionOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_002676.3(PMM1):c.388G>A (p.Glu130Lys)Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
β˜†β˜†β˜†β˜†2024β†’ Residue 130
View on ClinVar β†—
Related Genes
MPIProtein interaction99%HK2Protein interaction93%HK1Protein interaction93%HKDC1Protein interaction93%HK3Protein interaction93%GMPPBProtein interaction92%
Tissue Expression6 tissues
Liver
100%
Ovary
74%
Bone Marrow
66%
Lung
45%
Heart
39%
Brain
37%
Gene Interaction Network
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PMM1MPIHK2HK1HKDC1HK3GMPPB
PROTEIN STRUCTURE
Preparing viewer…
PDB2FUE Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.54–1.07]
RankingsWhere PMM1 stands among ~20K protein-coding genes
  • #11,389of 20,598
    Most Researched33
  • #5,238of 5,498
    Most Pathogenic Variants1
  • #10,764of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedPMM1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells.
PMID: 9271215
FEBS Lett Β· 1997
1.00
2
Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2.
PMID: 11404002
Gene Β· 2001
0.90
3
GUS and PMM1 as suitable reference genes for gene expression analysis in the liver tissue of patients with chronic hepatitis.
PMID: 18591914
Med Sci Monit Β· 2008
0.80
4
Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13.
PMID: 9119384
Genomics Β· 1997
0.70
5
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.
PMID: 9425221
Hum Mol Genet Β· 1998
0.60