Abstract
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 regulation. Here we show that their regulation is distinct and describe a promoter for the short isoform of PANK2. Moreover, we identify potential regulators of PANK2 expression, including NF-Y, FOXN4 and the human heterogeneous nuclear ribonucleoprotein A/B family. These findings validate expression of the short PANK2 isoform and enable predictions about potentially deleterious sequence variants in the regulatory region of this human disease gene.
Original language | English (US) |
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Pages (from-to) | 53-60 |
Number of pages | 8 |
Journal | Gene |
Volume | 465 |
Issue number | 1-2 |
DOIs | |
State | Published - Oct 2010 |
Keywords
- FOXN4
- HnRNPA/B
- NF-Y
- PKAN
- Pantothenate kinase
ASJC Scopus subject areas
- Genetics