KEGG   VARIANT: 2182v1
Entry
2182v1                      Variant                                
Name
ACSL4 mutation
Type
Loss of function
Gene
ACSL4  acyl-CoA synthetase long chain family member 4 [KO:K01897]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300157
Network
nt06525  Ferroptosis
Disease
H00480  X-linked intellectual developmental disorder
Reference
  Authors
Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A
  Title
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
  Journal
Nat Genet 30:436-40 (2002)
DOI:10.1038/ng857
Reference
  Authors
Doll S, Proneth B, Tyurina YY, Panzilius E, Kobayashi S, Ingold I, Irmler M, Beckers J, Aichler M, Walch A, Prokisch H, Trumbach D, Mao G, Qu F, Bayir H, Fullekrug J, Scheel CH, Wurst W, Schick JA, Kagan VE, Angeli JP, Conrad M
  Title
ACSL4 dictates ferroptosis sensitivity by shaping cellular lipid composition.
  Journal
Nat Chem Biol 13:91-98 (2017)
DOI:10.1038/nchembio.2239
Reference
  Authors
Cui Y, Zhang Y, Zhao X, Shao L, Liu G, Sun C, Xu R, Zhang Z
  Title
ACSL4 exacerbates ischemic stroke by promoting ferroptosis-induced brain injury and neuroinflammation.
  Journal
Brain Behav Immun 93:312-321 (2021)
DOI:10.1016/j.bbi.2021.01.003
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