| The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011],catalytic activity:ATP + a long-chain carboxylic acid + CoA = AMP + diphosphate + an acyl-CoA.,cofactor:Magnesium.,developmental stage:Expression is low at earlier stages of erythroid development but is very high in reticulocytes.,disease:A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5,12)(q31,p13) with ETV6.,disease:A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5,12)(q31,p13) with ETV6.,disease:A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5,12)(q31,p13) with ETV6.,function:Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid.,similarity:Belongs to the ATP-dependent AMP-binding enzyme family.,tissue specificity:Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, haemopoietic stem cells from cord blood, bone marrow, and brain., |
