PANK2

Also known as C20orf48, HARP, HSS, NBIA1, PKAN, pantothenate kinase 2

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

Gene data

PANK2

Name: pantothenate kinase 2
Type: protein-coding
Aliases: C20orf48, HARP, HSS, NBIA1, PKAN

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. [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

pantothenate kinase 2

Symbol: PANK2
Biotype: Protein coding
Organism: Homo sapiens
Location: 20:3,888,777-3,929,887
Strand: Forward (+)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 65126
exact match: identifiers.org/ncbigene/80025
genomic end: 3929887
genomic start: 3869486
cytogenetic location: 20p13

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Pantothenate kinase 2, mitochondrial is an enzyme that in humans is encoded by the PANK2 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). Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.