PANK2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PANK2 wild-type allele is located in the vicinity of and is approximately 41 kb in length. This allele, which encodes pantothenate kinase 2, mitochondrial protein, is involved in the phosphorylation of pantothenate and the biosynthesis of coenzyme A (CoA). Mutation of the gene is associated with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome and pantothenate kinase-associated neurodegeneration (PKAN; formerly Hallervorden-Spatz syndrome).

**Synonyms:** - C20orf48 - Chromosome 20 Open Reading Frame 48 Gene - FLJ11729 - HARP - HSS - Hallervorden-Spatz Syndrome Gene - NBIA1 - Neurodegeneration with Brain Iron Accumulation 1 (Hallervorden-Spatz Syndrome) Gene - PKAN - Pantothenate Kinase 2 wt Allele - Pantothenate Kinase-Associated Neurodegeneration Gene