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PANK2 encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Additionally we are shipping Pantothenate Kinase 2 Antibodies (83) and Pantothenate Kinase 2 Proteins (3) and many more products for this protein.
Homozygous PANK2 mutations in 22 PKAN patients from 13 Turkish families.
We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF (show SCN5A ELISA Kits)) with a preimplantation genetic diagnosis (PGD (show PGD ELISA Kits)) for pantothenate kinase (show FBL ELISA Kits)-associated neurodegeneration (PKAN) due to PANK2 mutation
Tissue or cellular hypoxic/ischemic injury within the globus pallidus may underlie the pathogenesis of pantothenate kinase (show FBL ELISA Kits)-associated neurodegeneration due to PANK2 mutations and apoE (show APOE ELISA Kits) aggregates.
Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN
Data suggests that the c.680 A>G mutation in the PANK2 gene alone is not sufficient to determine acanthocytic shape transformation in erythrocytes but some additional factor(s)/condition(s) are necessary for acanthocytosis to occur.
Novel PANK2 gene mutations and clinical features in patients with pantothenate kinase (show FBL ELISA Kits)-associated neurodegeneration.
study presents 2 siblings who were homozygous for a novel c.695A>G (p.Asp232Gly) missense mutation in exon 2 of PANK2 gene; index patient presented with a 5-year history of slowly progressive gait disturbance, dysarthria, mild axial rigidity and bradykinesia
Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients.
we describe the clinical, radiological, and molecular find-ings of a classic PKAN patient of Iranian descent with a novel frameshift mutation in the coding region of the PANK2 gene
Identification of novel compound heterozygous mutations in PANK2 gene in two Chinese siblings with atypical pantothenate kinase (show FBL ELISA Kits)-associated neurodegeneration.
Pank2(-/-) mice fed with a ketogenic diet developed a pantothenate kinase (show FBL ELISA Kits)-associated neurodegeneration-like syndrome
Data demonstrate that Pank2 localizes to mitochondria. Pank2-defective neurons have an altered mitochondrial membrane potential, a defect further corroborated by swollen mitochondria at the ultra-structural level and by defective respiration.
The data indicate that PanK1 and PanK2 can compensate for each other to supply tissue CoA.
expression of PanK2 was higher in human brain compared to mouse brain
This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.
pantothenate kinase 2 (Hallervorden-Spatz syndrome)
, pantothenate kinase 2
, pantothenate kinase 2, mitochondrial-like
, Hallervorden-Spatz syndrome
, pantothenate kinase 2, mitochondrial
, pantothenic acid kinase 2