ⓘ Enolase deficiency

                                     

ⓘ Enolase deficiency

Enolase Deficiency is a rare genetic disorder of glucose metabolism. Partial deficiencies have been observed in several caucasian families. The deficiency is transmitted through an autosomal dominant inheritance pattern. The gene for Enolase 1 has been localized to Chromosome 1 in humans. Enolase deficiency, like other glycolytic enzyme deficiences, usually manifests in red blood cells as they rely entirely on anaerobic glycolysis. Enolase deficiency is associated with a spherocytic phenotype and can result in hemolytic anemia, which is responsible for the clinical signs of Enolase deficiency.

                                     
  • Enolase 3 ENO3 more commonly known as beta - enolase ENO - β is an enzyme that in humans is encoded by the ENO3 gene. This gene encodes one of the three
  • Enolase 1 ENO1 more commonly known as alpha - enolase is a glycolytic enzyme expressed in most tissues, one of the isozymes of enolase Each isoenzyme
  • Englemann disease Enolase deficiency type 1 Enolase deficiency type 2 Enolase deficiency type 3 Enolase deficiency type 4 Enolase deficiency Enterobiasis Enteropathica
  • Enolase also known as phosphopyruvate hydratase, is a metalloenzyme responsible for the catalysis of the conversion of 2 - phosphoglycerate 2 - PG to phosphoenolpyruvate
  • Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It may affect humans as well as
  • isomerase deficiency affects step 2 of glycolysis. Triosephosphate isomerase deficiency affects step 5 of glycolysis. Phosphoglycerate kinase deficiency affects
  • genes ENO2, ENO3 that encodes the mammalian alpha - enolase enzyme. ENO2, which encodes enolase 2, is mostly expressed in neural tissues, leading to
  • glycogenosis and dextrinosis is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis
  • Cathepsin Z has also been found to interact with: Integrin, PRLP0, and γ - Enolase GRCh38: Ensembl release 89: ENSG00000101160 - Ensembl, May 2017 GRCm38:
  • may also serve in a structural maintenance role in these enzymes e.g., enolase Plant stress responses can be observed in plants that are under - or over - supplied