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]
BandNo data availableStart3,888,839 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

RefSeq (protein)

n/a

Location (UCSC)Chr 20: 3.89 – 3.93 MbChr 20: 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), formerly Hallervorden-Spatz syndrome. 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. PMID 8944032. doi:10.1038/ng1296-479.
  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. PMID 11479594. doi:10.1038/ng572.
  7. 1 2 "Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)".

Further reading


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