DISEASES

Disease-gene associations mined from literature

Literature associating AK2 and coronin-1A deficiency

AK2 [ENSP00000346921]

Adenylate kinase 2, mitochondrial; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.

Synonyms:  AK2,  AK2p,  hAK2,  AK2-001,  AK2-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM