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Literature summary for 2.7.1.33 extracted from

  • Saleheen, D.; Ali, T.; Aly, Z.; Khealani, B.; Frossard, P.M.
    Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family (2007), Pediatr. Neurol., 37, 296-298.
    View publication on PubMed

Application

Application Comment Organism
medicine pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia. The disease presents with dystonia, rigidity, and gait impairment, leading to restriction of activities and loss of ambulation. The disorder is caused by defective iron metabolism associated with mutations in the PANK2 gene, which codes for the pantothenate kinase enzyme. A mutation screen conducted in two siblings to establish a molecular diagnosis of the disease and a genetic test for the family is reported Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Synonyms

Synonyms Comment Organism
PanK2
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Homo sapiens