KEGG   VARIANT: 8398v1
Entry
8398v1                      Variant                                
Name
PLA2G6 mutation
Type
Loss of function
Gene
PLA2G6  phospholipase A2 group VI [KO:K16343]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603604
Network
nt06535  Efferocytosis
Disease
H00057  Parkinson disease
H00833  Neurodegeneration with brain iron accumulation
Reference
PMID:16783378
  Authors
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ
  Title
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
  Journal
Nat Genet 38:752-4 (2006)
DOI:10.1038/ng1826
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