Pantothenate Kinase 2

Alternative Names

  • PANK2
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OMIM Number

606157

NCBI Gene ID

80025

Uniprot ID

Q9BZ23

Length

41,107 bases

No. of Exons

10

No. of isoforms

4

Protein Name

Pantothenate kinase 2, mitochondrial

Molecular Mass

62681 Da

Amino Acid Count

570

Genomic Location

chr20:3,888,781-3,929,887

Gene Map Locus
20p13

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001386393.1:c.498_499delSaudi ArabiaNC_000020.11:g.3908121TG[2]Likely Pathogenic, PathogenicPathogenicNeurodegeneration with Brain Iron Accumulation 1NG_008131.3:g.24283TG[2]; NM_001386393.1:c.498_499del; NP_001373322.1:p.Cys166TrpfsTer157489119132585439
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