PMM2 Gene
Phosphomannomutase 2
Gene Information Card
| Symbol | PMM2 |
|---|---|
| Full Name | Phosphomannomutase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.2 |
| NCBI Gene ID | 5373 ncbi.nlm.nih.gov/gene/5373 |
| Ensembl ID | ENSG00000140650 |
| UniProt ID | O15305 |
| OMIM ID | 601785 |
| HGNC ID | 9115 |
| Aliases | CDG1A, CDG1a, MCDG1, PMI1, PMM 2, PMM2-1 |
Description
The PMM2 gene encodes phosphomannomutase 2, an enzyme that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, a critical step in the biosynthesis of GDP-mannose and dolichol-phosphate-mannose, essential for N-glycosylation. Mutations in PMM2 cause congenital disorder of glycosylation type Ia (CDG-Ia), the most common form of CDG.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type Ia (CDG-Ia) | Deficient phosphomannomutase activity leads to impaired N-glycosylation of proteins | ClinVar, OMIM |
| PMM2-CDG | Loss-of-function mutations reduce enzyme activity, causing multisystemic glycosylation defects | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Heart | 6.4 | Low |
| Lung | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocyte cell line |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.422G>A (p.Arg141His) | Missense | Common | Reduced enzyme activity |
| c.691G>A (p.Val231Met) | Missense | Frequent | Impaired protein stability |
| c.357C>A (p.Phe119Leu) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PMM2 mutations result in partial or complete loss of phosphomannomutase activity, leading to CDG-Ia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • phosphomannomutase activity | • mannose-6-phosphate isomerase activity |
| • carbohydrate metabolic process | • GDP-mannose biosynthetic process |
| • protein N-linked glycosylation |
Pathways
• GDP-mannose biosynthesis
• N-glycan biosynthesis
• Congenital disorders of glycosylation
Protein Summary
Phosphomannomutase 2 (PMM2) is a 246-amino acid cytoplasmic enzyme that interconverts mannose-6-phosphate and mannose-1-phosphate. It is essential for the synthesis of GDP-mannose, a donor substrate for N-glycosylation. Deficiency due to mutations leads to the most common congenital disorder of glycosylation, CDG-Ia, characterized by neurological, gastrointestinal, and developmental abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMM2 Knockout HEK293 Cell Line | EDJ-KQ5494 | Human | 5373 | Details Get a Quote |
| PMM2 Knockout HCT 116 Cell Line | EDJ-KQ27478 | Human | 5373 | Details Get a Quote |
| PMM2 Knockout A-549 Cell Line | EDJ-KQ28725 | Human | 5373 | Details Get a Quote |
| PMM2 Knockout HeLa Cell Line | EDJ-KQ28727 | Human | 5373 | Details Get a Quote |
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