Gene: PANK2

Alternate names for this Gene: C20orf48|HARP|HSS|NBIA1|PKAN

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: pantothenate kinase 2

Type of Gene: protein-coding

rs1261714833 in PANK2 gene and Hallervorden-Spatz Syndrome PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

PMID 12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

PMID 24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

PMID 27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

PMID 22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

PMID 24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

PMID 22127788 2012 "Missense PANK2 mutation without ""eye of the tiger"" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN)."

PMID 17903678 2007 Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.

PMID 25915509 2015 Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

PMID 22682757 2012 Motor activation in patients with Pantothenate-Kinase Associated Neurodegeneration: a functional magnetic resonance imaging study.

PMID 28357202 2016 A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.

PMID 16023068 2005 Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

rs863223343 in PANK2 gene and Retinitis Pigmentosa PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.