Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Characterization of the human PANK2 promoter. 2060 1
