ACSL6
Developmental stage
Expression is low at earlier stages of erythroid development but is very high in reticulocytes.
Function
Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:22633490, PubMed:24269233). 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.
Involvement in disease
A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6.
A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6.
A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ETV6.
Sequence Similarities
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, hemopoietic stem cells from cord blood, bone marrow and brain.
Cellular localization
- Mitochondrion outer membrane
- Single-pass type III membrane protein
- Peroxisome membrane
- Single-pass type III membrane protein
- Microsome membrane
- Single-pass type III membrane protein
- Endoplasmic reticulum membrane
- Single-pass type III membrane protein
Alternative names
ACS2, FACL6, KIAA0837, LACS5, ACSL6, Long-chain-fatty-acid--CoA ligase 6, Arachidonate--CoA ligase, Long-chain acyl-CoA synthetase 6, LACS 6