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Literature summary for 2.7.1.33 extracted from

  • Doi, H.; Koyano, S.; Miyatake, S.; Matsumoto, N.; Kameda, T.; Tomita, A.; Miyaji, Y.; Suzuki, Y.; Sawaishi, Y.; Kuroiwa, Y.
    Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and (99m)Tc-ECD brain perfusion SPECT findings (2009), J. Neurol. Sci., 290, 172-176.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information two siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration have the I346S mutation in pantothenate kinase-2 Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Synonyms

Synonyms Comment Organism
pantothenate kinase-2
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Homo sapiens

General Information

General Information Comment Organism
malfunction pantothenate kinase-associated neurodegeneration, formerly known as Hallervorden-Spatz syndrome Homo sapiens