Nucleoside monophosphate kinases, including adenylate kinases (AKs), catalyze the reversible phosphorylation between nucleoside triphosphates and monophosphates.
Pathology
germline mutations in reticular dysgenesis (MIM.267500)
References
Pannicke, U.; Honig, M.; Hess, I.; Friesen, C.; Holzmann, K.; Rump, E.-M.; Barth, T. F.; Rojewski, M. T.; Schulz, A.; Boehm, T.; Friedrich, W.; Schwarz, K. : Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nature Genet. 41: 101-105, 2009. PubMed ID : 19043417
AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10. Lee HJ, Pyo JO, Oh Y, Kim HJ, Hong SH, Jeon YJ, Kim H, Cho DH, Woo HN, Song S, Nam JH, Kim HJ, Kim KS, Jung YK. Nat Cell Biol. 2007 Nov;9(11):1303-10. PMID: 17952061
