EC Number   |
General Information |
Reference |
|---|
   2.7.1.14 | malfunction |
cystinosis is caused by mutations in CTNS. The most prevalent CTNS mutation is a homozygous 57-kb deletion. This 57-kb deletion encompasses not only the CTNS gene but also the adjacent gene, CARKL. Patients with this deletion have elevated urinary concentrations of sedoheptulose |
723197 |
| 2.7.1.14 | physiological function |
the enzyme can influence the production of reactive oxygen species, cell proliferation, cell phagocytosis, and polarization of macrophages in Apostichopus japonicus by regulating the flux of the pentose phosphate pathway, thereby affecting the immune response of Apostichopus japonicus |
760950 |
| 2.7.1.14 | physiological function |
using a screening strategy novel regulators of macrophage activation are identified. CARKL-dependent metabolic reprogramming is required for proper M1- and M2- like macrophage polarization and uncovers a ratelimiting requirement for appropriate glucose flux in macrophage polarization |
721990 |
