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Article

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria.

Human molecular genetics - 1 Feb 2003

Hörtnagel Konstanze, Prokisch Holger, Meitinger Thomas

Abstract excerpt

Mutations in the human PANK2 gene have been shown to occur in autosomal-recessive pantothenate kinase-associated neurodegeneration, a syndrome originally described by Hallervorden and Spatz. The kinase catalyses the first and rate-limiting step in the biosynthesis of coenzyme A, a key molecule in...

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Source

Identifiers

PMID: 12554685
DOI: 10.1093/hmg/ddg026

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12554685-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria.PMID 12554685Read ↗

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