Recombinant Human Phosphomannomutase 2 PMM2
- Known as:
- Recombinant Human Phosphomannomutase 2 PMM2
- Catalog number:
- enz-002
- Product Quantity:
- 5
- Category:
- -
- Supplier:
- Prospecbio
- Gene target:
- Recombinant Human Phosphomannomutase 2 PMM2
Related genes to: Recombinant Human Phosphomannomutase 2 PMM2
- Gene:
- PMM2 NIH gene
- Name:
- phosphomannomutase 2
- Previous symbol:
- CDG1
- Synonyms:
- CDGS, CDG1a, PMI, PMI1
- Chromosome:
- 16p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1997-05-22
- Date modifiied:
- 2016-10-05
Related products to: Recombinant Human Phosphomannomutase 2 PMM2
Related articles to: Recombinant Human Phosphomannomutase 2 PMM2
- Growth faltering is prevalent in 96% of children with Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). Published long-term growth data is extremely limited. Growth and weight patterns of PMM2-CDG children differ from the general population limiting the utility of existing normative growth charts to track development trajectory in comparison to peers with PMM2-CDG. - Source: PubMed
Publication date: 2026/04/20
Sarafoglou KyriakieLam ChristinaEdmondson Andrew CMiller AndreaStarosta Rodrigo TZeighami AzizaHorikoshi SeishuVreugdenhil HaydenScaglia FernandoKozicz TamasTan Queenie K GMiller Bradley SMartínez-Duncker IvánBerry Gerard TMcWilliams PeterMorava EvaAddo Yaw - Phosphomannomutase-2 (PMM2) deficiency leads to the prominent Congenital Disorder of Glycosylation (CDG), a rare disease currently lacking effective treatment options. The complete absence of PMM2 activity is incompatible with life, and all patients carry at least one missense destabilising variant that allows residual enzymatic function. This makes PMM2-CDG amenable to pharmacological chaperone treatment. Glucose-1,6-bisphosphate (Glc-1,6-P) is PMM2's natural activator and stabiliser, but its clinical application is severely limited due to its unfavourable physicochemical profile. Here, we applied the bioprecursor prodrug strategy to design and synthesise Lipo-Glc-1,6-P, a novel prodrug with good stability and oral bioavailability. Its advantageous physicochemical profile was confirmed through metabolomics-based studies in fibroblasts derived from PMM2-CDG patient. - Source: PubMed
Sodano FedericaMonticelli MariaHay Mele BrunoRolando BarbaraLazzarato LorettaDe Simone AngelaAndrisano VincenzaParis DeboraRimoli Maria GraziaCubellis Maria VittoriaAndreotti Giuseppina - Congenital disorders of glycosylation (CDG) are a large, rapidly expanding group of inherited disorders with variable phenotypes. More than 200 CDGs have been reported, many in only a small number of patients. Untargeted next-generation sequencing methods have led to the discovery of most CDGs, shortening the time to diagnosis in many cases. However, novel missense variants are frequently identified, and genotypes involving variants of uncertain significance often require additional testing. Our laboratory has received an increased number of referrals for CDG biochemical genetic testing, particularly for transferrin and apolipoprotein CIII isoform profiles, after variants in genes associated with the glycosylation pathway have initially been identified by molecular genetic testing. In this study, we quantified this practice and its outcomes by conducting a retrospective review of cases submitted to our laboratory for biochemical genetic testing from January 2022 through March 2025. Equivocal or uncertain molecular genetic testing results for a gene associated with a CDG were submitted for 89 patients from 87 families at the time that biochemical genetic testing was ordered. Molecular findings were reported for 52 different genes, of which PMM2 (n = 13), MAN1B1 (n = 6), and ALG13 (n = 6) were the most frequent. Two patients were excluded from further analysis due to the presence of variants in multiple genes associated with CDGs. For 23 of the 87 patients (26.4%), the CDG suspected on the basis of genotype could be supported or confirmed by biochemical genetic testing. For another 36 patients (41.4%), the suspected CDG could be excluded due to normal results, and for 16 patients (18.4%), a definitive diagnosis could not be established because the available biochemical genetic tests were not expected to be informative. In 11 cases (12.6%), the outcome was uncertain. In conclusion, health care professionals should be judicious when seeking biochemical genetic confirmation of genotypes suggestive of a CDG. Although molecular findings of uncertain significance require confirmation, not all CDGs can be identified with currently available biochemical genetic testing. - Source: PubMed
Publication date: 2026/03/25
Schultz Matthew JLiedtke Kristen LTurgeon Coleman TMatern DietrichHall Patricia L - Alzheimer's disease and related dementias (ADRD) and Parkinson's disease and related disorders (PDRD) have substantial genetic contributions, yet the role of rare damaging coding variants remains incompletely characterized at population scale. We performed gene-based burden testing of rare loss-of-function and deleterious missense variants using whole-genome sequencing data from large population biobanks combined with disease-specific sequencing cohorts, leveraging proxy phenotypes to maximize statistical power for late-onset neurodegenerative diseases. We confirmed rare variant burden in established ADRD genes () and PDRD genes (). We additionally identified novel associations in ADRD () and PDRD (). The strongest signal was observed for , where damaging variants clustered within domains mediating interactions with Rab GTPases and retromer components. Our results demonstrate the power of population-scale sequencing combined with proxy phenotypes to identify rare coding risk genes for neurodegenerative diseases. - Source: PubMed
Publication date: 2026/03/04
Le Guen YannPeña-Tauber AndrésPulgrossi Rafael CatoiaPark JunyoungOrias HoldenGreicius Michael D - Colorectal cancer (CRC) remains a major global health burden with limited therapeutic options. This study identifies phosphomannomutase 2 (PMM2) as a key oncogenic driver in CRC. PMM2 is significantly upregulated in CRC tissues and cell lines, correlating with advanced tumor stages, lymphatic metastasis, and poor patient survival. Functional assays reveal that PMM2 knockdown inhibits CRC cell proliferation, migration, invasion, and glycolytic activity (reducing glucose uptake, ATP/lactate production, and extracellular acidification rate). Mechanistically, PMM2 interacts with transcriptional regulator TRIM28, promoting TRIM28 nuclear translocation, recruiting transcription factor E2F4, and enhancing KIFC3 transcription by binding to its promoter. KIFC3 mediates PMM2-driven glycolysis, as KIFC3 knockdown partially reverses PMM2-induced metabolic reprogramming and tumor growth in xenograft models. Patient-derived organoid studies further confirm PMM2's role in promoting CRC progression through the PMM2-KIFC3 axis. Collectively, these findings establish PMM2 as a prognostic biomarker and potential therapeutic target in CRC, highlighting its critical role in metabolic reprogramming and tumorigenesis. - Source: PubMed
Publication date: 2026/03/06
Peng ZhengMa BingSong ZhouZhao YunshanYang YangLiu YongLi ChenggangZhang Yong