PANK2 (gene)

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

PANK2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPANK2, C20orf48, HARP, HSS, NBIA1, PKAN, pantothenate kinase 2
External IDsOMIM: 606157 MGI: 1921700 HomoloGene: 65126 GeneCards: PANK2
Orthologs
SpeciesHumanMouse
Entrez

80025

74450

Ensembl

ENSG00000125779

ENSMUSG00000037514

UniProt

Q9BZ23
Q6P1K9

Q7M753

RefSeq (mRNA)

NM_153501
NM_001355679
NM_001355681
NM_001355682
NM_001355683

RefSeq (protein)

NP_001342608
NP_001342610
NP_001342611
NP_001342612
NP_705721

Location (UCSC)Chr 20: 3.89 – 3.93 MbChr 2: 131.1 – 131.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000125779 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000037514 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Zhang, YM; 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): 107–14. doi:10.1074/jbc.M508825200. PMID 16272150.
  6. "Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)".

Further reading

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