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Pantothenate kinase 1

pantothenate kinase, PanK
This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] (from NCBI)
Top mentioned proteins: ACID, STEP, CAN, HAD, AGE
Papers on pantothenate kinase
First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias.
Alshahrani et al., Egypt. In Ann Med Surg (lond), Feb 2016
BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN), sickle cell anemia, and thalassemia are autosomal recessive disorders that can cause iron deposition in tissues during childhood.
Crystal structure of archaeal ketopantoate reductase complexed with coenzyme A and 2-oxopantoate provides structural insights into feedback regulation.
Miki et al., Kyoto, Japan. In Proteins, Feb 2016
In bacteria and eukaryotes, pantothenate kinase is the target of feedback inhibition by CoA.
Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease.
Finazzi et al., Brescia, Italy. In Neurobiol Dis, Jan 2016
Pantothenate Kinase Associated Neurodegeneration (PKAN) is an autosomal recessive disorder with mutations in the pantothenate kinase 2 gene (PANK2), encoding an essential enzyme for Coenzyme A (CoA) biosynthesis.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Hayflick et al., Portland, United States. In Mol Genet Metab, Dec 2015
Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive movement disorder that is due to mutations in PANK2.
Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy.
Jackowski et al., Memphis, United States. In Mol Genet Metab, Dec 2015
Pantothenate (vitamin B5) phosphorylation by pantothenate kinase (PanK) is thought to control the rate of CoA production.
"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).
Danda et al., Vellore, India. In Brain Dev, Dec 2015
Imaging findings in patients with MPAN mimics the eye of tiger appearance in patients with pantothenate kinase associated neurodegeneration.
Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.
Walker, United States. In J Mov Disord, May 2015
The four key NA syndromes are described here-chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, and pantothenate kinase- associated neurodegeneration.
Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.
Wray et al., London, United Kingdom. In Neuropathol Appl Neurobiol, May 2015
Mutations in 10 genes have been associated with NBIA that include Ceruloplasmin (Cp) and ferritin light chain (FTL), both directly involved in iron homeostasis, as well as Pantothenate Kinase 2 (PANK2), Phospholipase A2 group 6 (PLA2G6), Fatty acid hydroxylase 2 (FA2H), Coenzyme A synthase (COASY), C19orf12, WDR45 and DCAF17 (C2orf37).
Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.
Tiranti et al., Milano, Italy. In Biochem Soc Trans, 2014
PKAN (pantothenate kinase-associated neurodegeneration), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA.
Defective pantothenate metabolism and neurodegeneration.
Hayflick, In Biochem Soc Trans, 2014
PKAN (pantothenate kinase-associated neurodegeneration) manifests with damage to brain, retina and testis and is caused by mutations in PANK2, the gene encoding the mitochondrial form of pantothenate kinase, a key regulatory enzyme in CoA synthesis.
Neuroacanthocytosis in china: a review of published reports.
Danek et al., M√ľnchen, Germany. In Tremor Other Hyperkinet Mov (n Y), 2013
BACKGROUND: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN).
Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder.
Park et al., Toronto, Canada. In J Biol Chem, 2007
analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration
PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism.
Wood et al., London, United Kingdom. In Lancet Neurol, 2004
We provide a pragmatic guide for clinicians, and detail the recent developments in the genetics of Parkinson's disease that have shaped our current understanding and management of this disease and other parkinsonian disorders.
PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression.
Jackowski et al., Memphis, United States. In J Lipid Res, 2004
PPARalpha transcription factor as a major factor governing hepatic CoA levels by specific modulation of PANK1alpha gene expression
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
Gitschier et al., Portland, United States. In N Engl J Med, 2003
Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase-associated neurodegeneration.
In reference to the Short Communication published by Ni et al.
Gitschier et al., In Int J Biochem Cell Biol, 2002
alternative splicing product
Cloning and characterization of a novel human pantothenate kinase gene.
Mao et al., Shanghai, China. In Int J Biochem Cell Biol, 2002
molecular cloning and characterization of a new human PanK gene
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
Hayflick et al., San Francisco, United States. In Nat Genet, 2001
Here we show that HSS is caused by a defect in a novel pantothenate kinase gene and propose a mechanism for oxidative stress in the pathophysiology of the disease.
Ki-ras mutations as a prognostic factor in extrahepatic bile system cancer. PANK-ras I Project Investigators.
Real et al., Barcelona, Spain. In J Clin Oncol, 1995
PURPOSE: To assess the prevalence and prognostic significance of Ki-ras codon 12 mutations in extrahepatic biliary system cancer (EBSC).
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