| 44117 |
Q9V3S9 |
BGM_DROME |
Very long-chain-fatty-acid--CoA ligase bubblegum (EC 6.2.1.3) |
DISRUPTION PHENOTYPE |
Adult neurodegeneration, with marked dilation of photoreceptor axons (PubMed:10373116, PubMed:26893370, PubMed:29739804). Results in degeneration of lamina and retina, defects in the fenestrated basement membrane and ommatidial disarray (PubMed:26893370, PubMed:29739804). The phenotype is exacerbated in constant light conditions and improves in total darkness (PubMed:29739804). Effects are probably due to elevated levels of very long chain fatty acids (VLCFAs) (PubMed:10373116, PubMed:29739804). Feeding the fly mutant with glyceryl trioleate oil or medium-chain fatty acids, blocks the accumulation of excess VLCFAs as well as development of the pathology (PubMed:10373116, PubMed:29739804). Results in altered neuronal function, including altered sleep rebound following sleep deprivation (PubMed:25409104). Simultaneous knockout of hll results in enhanced retinal degeneration and altered fatty acids metabolism (PubMed:26893370). {ECO:0000269|PubMed:10373116, ECO:0000269|PubMed:25409104, ECO:0000269|PubMed:26893370, ECO:0000269|PubMed:29739804}. |