PANK2
Pantothenate kinase 2, mitochondrial is an enzyme that in humans is encoded by the PANK2 gene.
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 (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa and Pallidal degeneration) syndrome and Pantothenate kinase-associated neurodegeneration (PKAN). Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000125779 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037514 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Zhang Y, O Rock C, Jackowski S (January 2006). "Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration". The Journal of Biological Chemistry. 281 (1): 107–114. doi:10.1074/jbc.M508825200. PMID 16272150.
- ↑ "Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)".
Further reading
- Robishaw JD, Neely JR (Jan 1985). "Coenzyme A metabolism". The American Journal of Physiology. 248 (1 Pt 1): E1–E9. doi:10.1152/ajpendo.1985.248.1.E1. PMID 2981478.
- Hayflick SJ (Sep 2006). "Neurodegeneration with brain iron accumulation: from genes to pathogenesis". Seminars in Pediatric Neurology. 13 (3): 182–185. doi:10.1016/j.spen.2006.08.007. PMID 17101457.
- Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ (Jun 2002). "HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration". Neurology. 58 (11): 1673–1674. doi:10.1212/wnl.58.11.1673. PMID 12058097. S2CID 44558289.
- Hörtnagel K, Prokisch H, Meitinger T (Feb 2003). "An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria". Human Molecular Genetics. 12 (3): 321–327. doi:10.1093/hmg/ddg026. PMID 12554685.
- Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, et al. (Mar 2004). "Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration". Annals of the New York Academy of Sciences. 1012 (1): 282–298. Bibcode:2004NYASA1012..282J. doi:10.1196/annals.1306.023. PMID 15105273. S2CID 29442698.
- Marelli C, Piacentini S, Garavaglia B, Girotti F, Albanese A (Feb 2005). "Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration". Movement Disorders. 20 (2): 208–212. doi:10.1002/mds.20282. PMID 15390030. S2CID 45760854.
- Yamashita S, Maeda Y, Ohmori H, Uchida Y, Hirano T, Yonemura K, et al. (Oct 2004). "Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene". Journal of the Neurological Sciences. 225 (1–2): 129–133. doi:10.1016/j.jns.2004.07.012. PMID 15465096. S2CID 12640184.
- Kotzbauer PT, Truax AC, Trojanowski JQ, Lee VM (Jan 2005). "Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2". The Journal of Neuroscience. 25 (3): 689–698. doi:10.1523/JNEUROSCI.4265-04.2005. PMC 6725318. PMID 15659606.
- Zhang YH, Tang BS, Zhao AL, Xia K, Long ZG, Guo JF, et al. (Jul 2005). "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration". Movement Disorders. 20 (7): 819–821. doi:10.1002/mds.20408. PMC 2105744. PMID 15747360.
- Klopstock T, Elstner M, Lucking CB, Muller-Myhsok B, Gasser T, Botz E, et al. (May 2005). "Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease". Neuroscience Letters. 379 (3): 195–198. doi:10.1016/j.neulet.2004.12.061. PMID 15843062. S2CID 31733534.
- Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, et al. (May 2005). "The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration". Neurology. 64 (10): 1810–1812. doi:10.1212/01.WNL.0000161843.52641.EC. PMID 15911822. S2CID 23003382.
- Rump P, Lemmink HH, Verschuuren-Bemelmans CC, Grootscholten PM, Fock JM, Hayflick SJ, et al. (Dec 2005). "A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect". Neurogenetics. 6 (4): 201–207. doi:10.1007/s10048-005-0018-9. PMC 2105745. PMID 16240131.
External links
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