Literature summary for 2.7.1.33 extracted from

Wong, R.W.; Richa, D.C.; Hahn, P.; Green, W.R.; Dunaief, J.L.
Iron toxicity as a potential factor in AMD (2007), Retina (Philadelphia, Pa. ), 27, 997-1003.

Application

Application	Comment	Organism
medicine	pantothenate kinase associated neurodegeneration is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients have a mutation in the gene encoding pantothenate kinase 2 which is a key regulator enzyme in the biosynthesis of coenzyme A	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms	Comment	Organism
PanK2	-	Homo sapiens

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Release 2023.1 (January 2023)