Characterization of the human PANK2 promoter.
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ABSTRACT:
SUBMITTER: Polster BJ
PROVIDER: S-EPMC2949354 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Publications
Characterization of the human PANK2 promoter.
Polster Brenda J BJ Yoon Moon Y MY Hayflick Susan J SJ
Gene 20100711 1-2
Pantothenate kinase 2 (PANK2) is an essential regulatory enzyme in coenzyme A biosynthesis. PANK2 mutations cause pantothenate kinase-associated neurodegeneration (PKAN), which leads to pigmentary retinopathy, progressive dystonia and other abnormalities. Two nearly identical PANK2 isoforms have been described: short PANK2 and mature PANK2, which are processed from a precursor isoform. Since the biological relevance of these isoforms remains unclear, we sought to explore their transcriptional re ...[more]
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