family member 1 (PC-1, CD203a) is an enzyme that in humans is encoded by the ENPP1 gene. This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase...
Click to read more »is an extremely rare genetic disorder. It is caused by mutations in the ENPP1 gene in 75% of the subjects or in mutations in the ABCC6 genes in 10% of...
Click to read more »INZ-701 is a recombinant ENPP1 enzyme developed to treat some genetic disorders that prevent normal production of ENPP1. It is developed by Inozyme Pharma...
Click to read more »cancer. Li also discovered ENPP1 as the first known hydrolase of cGAMP, the natural ligand and activator of STING. ENPP1 is an extracellular enzyme,...
Click to read more »is related to the gene ENPP1, which when mutated is known to cause arterial calcification in infants. Treatments for the ENPP1 mutation, such as bisphosphonates...
Click to read more »suggested that mutations in the ENPP1 and GACI genes may contribute to the development of hypercementosis. Loss of function in ENPP1 caused generalized arterial...
Click to read more »hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene". American Journal of Human Genetics. 86 (2): 273–278. doi:10.1016/j...
Click to read more »calciphylaxis is unknown. They are most beneficial in patients who have a genetic ENPP1 deficiency and have been shown to slow development of calciphylaxis lesions...
Click to read more »Zhu J, Xie Q, Feng J, Gong Y, Fan Q, et al. (May 2024). "Tumor Exosomal ENPP1 Hydrolyzes cGAMP to Inhibit cGAS-STING Signaling". Advanced Science. 11...
Click to read more »polygéniques d'obésité: études des gènes candidats ACDC/Adiponectine et ENPP1/PC-1 (2006) was supervised by Philippe Froguel. She later worked at the...
Click to read more »cases of PXE, mutations in ABCC6 cannot be found, and other genes such as ENPP1 may be implicated. In PXE, there is mineralization (accumulation of calcium...
Click to read more »some important genes like ENPP1, ADIPOQ, TRIB3, RETN, IRS1 and PPARgamma2 and also insulin signaling inhibitors such as ENPP1. Hepatology unit works on...
Click to read more »glycolysis and import pyruvate into mitochondria under non-optimal conditions. ENPP1: This enzyme regulates glucose homeostasis and the metabolic pathway in...
Click to read more »Severe Insulin Resistance. Insulin receptor has been shown to interact with ENPP1, GRB10, GRB7, IRS1, MAD2L1, PRKCD, PTPN11, and SH2B1. GRCh38: Ensembl release...
Click to read more »cysteine probably involved in a disulfide bond. '*': position of the pattern. ENPP1; ENPP2; ENPP3; PRG4; SUSD2; VTN; Jenne D, Stanley KK (1987). "Nucleotide...
Click to read more »PMID 27476657. Chourabi, Marwa; Liew, Mei Shan; Lim, Shawn; et al. (2018-01-08). "ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis". Journal...
Click to read more »HGNC:25474; Q8TC92 4961 ENOX2 HGNC:2259; Q16206 4962 ENPEP HGNC:3355; Q07075 4963 ENPP1 HGNC:3356; P22413 4964 ENPP2 HGNC:3357; Q13822 4965 ENPP3 HGNC:3358; O14638...
Click to read more »CD203a Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1); this protein belongs to a series of ectoenzymes involved in hydrolysis...
Click to read more »Park, Morag; Roux, Philippe P; Muller, William J (2023). "HER2Δ16 Engages ENPP1 to Promote an Immune-Cold Microenvironment in Breast Cancer". Cancer Immunology...
Click to read more »9; 609040; PKP2 Arterial calcification, generalized, of infancy; 208000; ENPP1 Arterial tortuosity syndrome; 208050; SLC2A10 Arthrogryposis multiplex congenita...
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