The ak3 gene encodes adenylate kinase 3, an enzyme involved in nucleotide metabolism that catalyzes the reversible transfer of a phosphate group between ATP and AMP to form two ADP molecules, playing a...[+]

The ak3 gene encodes adenylate kinase 3, an enzyme involved in nucleotide metabolism that catalyzes the reversible transfer of a phosphate group between ATP and AMP to form two ADP molecules, playing a role in cellular energy homeostasis. In early development, its mRNA is maternally deposited and expressed during oogenesis and embryogenesis. The protein is localized to the mitochondrial intermembrane space. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD