Symbol: Name: ID: |
PANK2 pantothenate kinase 2 GFS:5030 |
Gene name: | PANK2 |
Chromosome: | 20p13 |
Previous Symbols: | C20orf48, NBIA1 |
Previous Names: | neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome) |
Aliases: | HSS, FLJ11729, PKAN, HARP |
Name Aliases: | Hallervorden-Spatz syndrome |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1921700 | Rat Genome Database ID: | |
HGNC ID: | HGNC:15894 | RefSeq IDs: | NM_024960 |
Entrez Gene ID: | 80025 | Ensembl Gene ID: | ENSG00000125779 |
VEGA IDs: | OTTHUMG00000031768 | UniProt ID: | Q9BZ23 |
UCSC ID: | uc002wkc.2 | OMIM ID: | 606157 |
Pubmed: | PMID8944032 PMID 11479594 | ||
CCDS IDs: | CCDSCCDS13071.2 CCDS CCDS13072.1 |
Pantothenate kinase 2, mitochondrial is an enzyme that in humans is encoded by the PANK2 gene.
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].
Function: May be the master regulator of the CoA biosynthesis (By similarity).
Products for PANK2 gene
Catalog | Product Name | Application | Company |
GFS:E05030 | pantothenate kinase 2; ELISA kit | ELISA | n/a |
GFS:A05030 | pantothenate kinase 2; Anti | ANTIBODIES | n/a |
GFS:P05030 | pantothenate kinase 2; Protien | Protien | n/a |