Literature associating NMRK2 and congenital myasthenic syndrome 7
NMRK2 [ENSP00000480091]
Nicotinamide riboside kinase 2; Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis; Belongs to the uridine kinase family. NRK subfamily.
Synonyms: NMRK2, NMRK2p, hNMRK2, M0QX67, M0R0T8 ...