Full name: adenylate kinase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HTL-S-58j

Summary: This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]

Expression: Ubiquitous expression in heart (RPKM 35.4), lung (RPKM 29.7) and 25 other tissues

Gene size: 13142bp

Exon count: 9