Recombinant Human Pantothenate kinase 2, mitochondrial (PANK2)

1. We found c.966 G>T (p.Glu322Asp) mutation in the PANK2 gene mutation analysis in the individuals from the brain imaging findings. Although individuals in this family who had a homozygous mutation in PANK2 gene analyses had the 'eye-of-the-tiger' sign and atypical disease, they were noted to have differing clinical findings. PMID: 30226968
2. Results from a study on gene expression variability markers in early-stage human embryos shows that PANK2 is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
3. The key finding of the study encompassed the detection of a novel PANK2 gene mutation in a child of Chinese ethnicity with PKAN. The PANK2 gene c.A650G, as well as c.T1341G, mutations may be potential mutation hotspots in children with PKAN in Mainland China. PMID: 29642163
4. PANK2 mutations have an effect on iPSC-derived cortical neuronal cells in culture PMID: 28863176
5. These findings provide direct evidence that PANK2 malfunctioning is responsible for abnormal phenotypes in human neuronal cells of pantothenate kinase-associated neurodegeneration patients. PMID: 27516453
6. A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. PMID: 28821231
7. Results show that overexpression of PANK2 results in substantial elevated level of Co-A in skeletal muscle in transgenic mice which displays reduced skeletal muscle mass and significantly impaired exercise tolerance and grip strength. PMID: 28189602
8. Homozygous PANK2 mutations in 22 PKAN patients from 13 Turkish families. PMID: 28113101
9. We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation PMID: 27815806
10. Tissue or cellular hypoxic/ischemic injury within the globus pallidus may underlie the pathogenesis of pantothenate kinase-associated neurodegeneration due to PANK2 mutations and apoE aggregates. PMID: 26547561
11. 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 PMID: 25668476
12. 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. PMID: 25915509
13. Novel PANK2 gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. PMID: 24689511
14. 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 PMID: 24655737
15. Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients. PMID: 24348190
16. 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 PMID: 23116688
17. Identification of novel compound heterozygous mutations in PANK2 gene in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. PMID: 22930366
18. Mutations in both PANK2 and C19orf12 contributed significantly to neurodegeneration with brain iron accumulation in the Iranian patients PMID: 23166001
19. Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients highlight a possible molecular relationship between Pank2 deficiency and iron misregulation. PMID: 22692681
20. The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with Pantothenate kinase-associated neurodegeneration. PMID: 22103354
21. study used global metabolic profiling to explore the metabolic consequences of mutations in pantothenate kinase 2 that are responsible for Pantothenate Kinase-Associated Neurodegeneration PMID: 22221393
22. This study identified that new mutation of Pantothenate kinase associated with neurodegeneration. PMID: 21442655
23. PANK2 mutations are not invariably associated with the "eye-of-the-tiger sign (early onset generalised dystonia and basal ganglia abnormalities) PMID: 20551478
24. Progressive delayed-onset postanoxic dystonia - First example of PKAN symptom onset possibly provoked by environmental trigger (anoxia) PMID: 20925075
25. the patient reported here shows a peculiar PKAN clinical phenotype probably based on new mutations identified in the PANK2 gene PMID: 20721927
26. 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: 20603201
27. two Japanese siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration who were found to have a novel PANK2 mutation PMID: 20006850
28. Missense mutaions in PANK2 gene were observed in two siblings with Hallervorden- Spatz syndrome PMID: 14639680
29. The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. Parkinsonism is seen predominantly in adult-onset patients PMID: 14743358
30. Adult-onset focal dystonia was the presenting sign of pantothenate kinase-associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T) PMID: 15390030
31. Direct sequencing of the neurodegeneration patient's genomic DNA revealed homozygous base substitutions in the pantothenate kinase gene (PANK2): the A764-->G substitution (N245S) due to consanguinity of her parents. PMID: 15465096
32. These results suggest that neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden-Spatz disease) is caused by altered neuronal mitochondrial lipid metabolism caused by mutations disrupting PanK2 protein levels and catalytic activity. PMID: 15659606
33. Novel compound heterozygous mutations (Asp268Gly and Ile391Asn) in the PANK2 gene in a Chinese patient with Hallervorden-Spatz Syndrome PMID: 15747360
34. PANK2 gene mutations can cause Hallervorden-Spatz syndrome in Chinese patients. PMID: 15793782
35. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. PMID: 15911822
36. The 1142_1144delGAG mutation of PANK2 probably originated from one common ancestor at the beginning of the ninth century, approximately 38 generations ago PMID: 16240131
37. Unique biochemical features of the PanK2 isoforms suggest that catalytic defects may not be the sole cause for the neurodegenerative phenotype. PMID: 16272150
38. We demonstrate that the G521R mutation results in an unstable and inactive protein in tremor-predominant neurodegeneration. PMID: 16450344
39. PANK2 mutations are not associated with some adult degenerative conditions PMID: 16962235
40. PanK2 is located in the mitochondria to sense the levels of palmitoylcarnitine and up-regulate CoA biosynthesis in response to an increased mitochondrial demand for the cofactor to support beta-oxidation PMID: 17242360
41. expression of PanK2 was higher in human brain compared to mouse brain PMID: 17825826
42. Pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia associated with mutations in the PANK2 gene. PMID: 17903678
43. Two novel PANK2 gene mutation in Pantothenate Kinase-Associated Neurodegeneration. PMID: 18006953
44. Focal hand dystonia showed atypical phenotype of PANK2 gene mutations. PMID: 18074375
45. a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase-associated neurodegeneration was identified PMID: 18239249
46. In this report identified a novel mutation( in the PANK29p.D378G and p.D452G )gene responsible for PKAN and confirmed that PKAN has a board spectrum of phenotype, even among siblings with same mutations. PMID: 19224615
47. Identified two alternatively used first exons resulting in distinct isoforms, one of which carries an N-terminal extension with a predicted mitochondrial targeting signal. PMID: 12554685
48. An unconventional translational start codon, CUG, which is polymorphic in the general population is proposed. PANK2 is predicted to localize to mitochondria, with a 29 amino acid mitochondrial targeting sequence identified. PMID: 15105273
49. Demonstrated that the mitochondrial isoform is sequentially cleaved at two sites by the mitochondrial processing peptidase, generating a long-lived 48 kDa mature protein localized to mitochondria of neurons in human brain. PMID: 15659606

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HGNC: 15894

OMIM: 234200

KEGG: hsa:80025

STRING: 9606.ENSP00000313377

UniGene: Hs.114180