Literature summary for 2.7.1.33 extracted from

Kazek, B.; Jamroz, E.; Gencik, M.; Jezela Stanek, A.; Marszal, E.; Wojaczynska-Stanek, K.
A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication (2007), J. Child Neurol., 22, 1256-1259.

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Application

Application	Comment	Organism
medicine	pantothenate kinase-associated neurodegeneration is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyramidal signs, retinitis pigmentosa, optic atrophy, dementia, and iron depositions in the globus pallidus. Identification of mutations of PANK2 gene in patients with proven molecular diagnosis of pantothenate kinase-associated neurodegeneration	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
PanK2	-	Homo sapiens

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Release 2023.1 (January 2023)