PANK2

Adult-onset

pantothenate kinase 2

20p13Autosomal RecessiveMitochondrialOMIM 256600

Also known as: C20orf48, HARP, HSS, NBIA1, PKAN

Gene Summary

RefSeq / NCBI

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]

Associated Conditions

Neuroaxonal Dystrophy (Late infantile; NBIA2A)

Autosomal RecessiveMitochondrialNeuropathy (Hereditary)

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

ClinGen

Clinical Genome Resource

G2P

Gene-to-Phenotype (EBI)

GeneReviews

NCBI Expert-Authored Reviews

NCBI Gene

National Center for Biotechnology Information

PubMed

Biomedical Literature

UniProt

Universal Protein Resource

DECIPHER

DatabasE of genomiC varIation and Phenotype in Humans

Related Genes

EGR2early growth response 2

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.