PANK2 wt Allele

Preferred Label : PANK2 wt Allele;

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

NCIt 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).;

NCI Metathesaurus CUI : CL1905153;

GenBank Accession Number : AK021791;

Details

Origin ID

C191802;

UMLS CUI

C5780754;

OMIM relation
- Pantothenate kinase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20p13 [NCIt concept]
gene_is_element_in_pathway
- Pantothenate and CoA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Nucleotide Biosynthesis Process [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Triglyceride Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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