PANK2 (gene)

Pantothenate kinase 2 (Hallervorden-Spatz syndrome)
Identifiers
Symbols	PANK2 ; HSS; HARP; C20orf48; MGC15053; NBIA1; PKAN
External IDs	Template:OMIM5 Template:MGI HomoloGene: 65126
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
File:PBB GE PANK2 218809 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Pantothenate kinase 2 (Hallervorden-Spatz syndrome), also known as PANK2, is a human 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 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.

Further reading

• Robishaw JD, Neely JR (1985). "Coenzyme A metabolism". Am. J. Physiol. 248 (1 Pt 1): E1–9. PMID 2981478.
• Hayflick SJ (2007). "Neurodegeneration with brain iron accumulation: from genes to pathogenesis". Seminars in pediatric neurology. 13 (3): 182–5. doi:10.1016/j.spen.2006.08.007. PMID 17101457.
• Taylor TD, Litt M, Kramer P; et al. (1997). "Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13". Nat. Genet. 14 (4): 479–81. doi:10.1038/ng1296-479. PMID 8944032.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhou B, Westaway SK, Levinson B; et al. (2001). "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome". Nat. Genet. 28 (4): 345–9. doi:10.1038/ng572. PMID 11479594.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ching KH, Westaway SK, Gitschier J; et al. (2002). "HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration". Neurology. 58 (11): 1673–4. PMID 12058097.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hörtnagel K, Prokisch H, Meitinger T (2003). "An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria". Hum. Mol. Genet. 12 (3): 321–7. PMID 12554685.CS1 maint: Multiple names: authors list (link)
• Molinuevo JL, Martí MJ, Blesa R, Tolosa E (2004). "Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome". Mov. Disord. 18 (11): 1351–3. doi:10.1002/mds.10520. PMID 14639680.CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Thomas M, Hayflick SJ, Jankovic J (2004). "Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration". Mov. Disord. 19 (1): 36–42. doi:10.1002/mds.10650. PMID 14743358.CS1 maint: Multiple names: authors list (link)
• Johnson MA, Kuo YM, Westaway SK; et al. (2004). "Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration". Ann. N. Y. Acad. Sci. 1012: 282–98. PMID 15105273.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marelli C, Piacentini S, Garavaglia B; et al. (2005). "Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration". Mov. Disord. 20 (2): 208–12. doi:10.1002/mds.20282. PMID 15390030.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yamashita S, Maeda Y, Ohmori H; et al. (2005). "Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene". J. Neurol. Sci. 225 (1–2): 129–33. doi:10.1016/j.jns.2004.07.012. PMID 15465096.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kotzbauer PT, Truax AC, Trojanowski JQ, Lee VM (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". J. Neurosci. 25 (3): 689–98. doi:10.1523/JNEUROSCI.4265-04.2005. PMID 15659606.CS1 maint: Multiple names: authors list (link)
• Zhang YH, Tang BS, Zhao AL; et al. (2005). "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration". Mov. Disord. 20 (7): 819–21. doi:10.1002/mds.20408. PMID 15747360.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Klopstock T, Elstner M, Lücking CB; et al. (2005). "Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease". Neurosci. Lett. 379 (3): 195–8. doi:10.1016/j.neulet.2004.12.061. PMID 15843062.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pellecchia MT, Valente EM, Cif L; et al. (2006). "The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration". Neurology. 64 (10): 1810–2. doi:10.1212/01.WNL.0000161843.52641.EC. PMID 15911822.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rump P, Lemmink HH, Verschuuren-Bemelmans CC; et al. (2006). "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): 201–7. doi:10.1007/s10048-005-0018-9. PMID 16240131.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)