• AK4 (Adenylate Kinase 4) is a Protein Coding gene. (ellynaturals.pl)
  • 2023110 · JAK1 (Janus Kinase 1) is a Protein Coding gene. (ellynaturals.pl)
  • Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. (lu.se)
  • Individuals with a past diagnosis of severe combined immune deficiency (including many cases of 'leaky SCID', Omenn syndrome, and reticular dysgenesis) who have undergone blood and marrow transplant, gene therapy, or enzyme replacement in the past may be eligible for this study. (stanfordhealthcare.org)
  • The AK2 isoenzyme is expressed in the mitochondrial intermembrane space and is mutated in reticular dysgenesis (RD), a rare form of severe combined immunodeficiency (SCID). (nih.gov)
  • An isoform of this enzyme, adenylate kinase 4 (AK4), is localized in the mitochondrial matrix and is believed to be involved in stress, drug resistance, malignant transformation in cancer, and ATP regulation. (neonowerewolucje.pl)
  • Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early differentiation arrest in the myeloid lineage and impaired lymphoid maturation. (ac.be)
  • Adenylate kinases (AKs) are phosphotransferase enzymes that regulate the cellular adenine nucleotide composition and have critical roles in energy homeostasis in all tissues. (nih.gov)
  • Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. (nih.gov)
  • Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. (ac.be)
  • Mutations in this gene are the cause of reticular dysgenesis. (nih.gov)
  • Adenylate kinase (EC 2.7.4.3) (also known as ADK or myokinase) is a phosphotransferase enzyme that catalyzes the interconversion of the various adenosine phosphates (ATP, ADP, and AMP). (wikipedia.org)
  • 2016316 · Adenylate kinase is a key enzyme in the high-energy phosphoryl transfer reaction in living cells. (neonowerewolucje.pl)
  • Patients with 'leaky SCID', reticular dysgenesis, and Omenn syndrome may also be eligible to participate in 6901. (nih.gov)