PANK2 Products

Description

PANK2 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.

Bioinformatics

Uniprot	AAN32907 Human NM_024960 Human NM_153637 Human NM_153638 Human NM_153639 Human NM_153640 Human NM_153641 Human NP_079236 Human NP_705902 Human NP_705904 Human
Product By Gene ID	80025
Alternate Names	C20orf48 EC 2.7.1.33 FLJ17232 Hallervorden-Spatz syndrome HARPFLJ11729 hPanK2 HSS MGC15053 NBIA1 pantothenate kinase 2 pantothenate kinase 2, mitochondrial Pantothenic acid kinase 2 PKANneurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)