PANK2 (gene)

PANK2
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesPANK2, C20orf48, HARP, HSS, NBIA1, PKAN, pantothenate kinase 2
External IDsMGI: 1921700 HomoloGene: 65126 GeneCards: PANK2
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20p13Start3,888,839 bp[1]
End3,929,882 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

80025

74450

Ensembl

ENSG00000125779

ENSMUSG00000037514

UniProt

Q9BZ23
Q6P1K9

n/a

RefSeq (mRNA)

NM_153501
NM_001355679
NM_001355681
NM_001355682
NM_001355683

RefSeq (protein)

n/a

Location (UCSC)Chr 20: 3.89 – 3.93 MbChr 2: 131.26 – 131.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Pantothenate kinase 2, mitochondrial is an enzyme that in humans is encoded by the PANK2 gene.[5][6][7]

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). Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000125779 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037514 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ (Jan 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.
  6. ↑ Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (Jul 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.
  7. 1 2 "Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)".

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.
  • 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.
  • Ching KH, Westaway SK, Gitschier J, et al. (2002). "HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration". Neurology. 58 (11): 1673–4. doi:10.1212/wnl.58.11.1673. PMID 12058097.
  • 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. PMC 139241. PMID 12477932.
  • 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. doi:10.1093/hmg/ddg026. PMID 12554685.
  • 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.
  • 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.
  • 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.
  • 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. doi:10.1196/annals.1306.023. PMID 15105273.
  • 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.
  • 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.
  • 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.
  • 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. PMC 2105744. PMID 15747360.
  • 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.
  • 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.
  • 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. PMC 2105745. PMID 16240131.


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