LP31879-7
PANK2 gene
Active
Description
The PANK2 gene (pantothenate kinase 2) [HGNC Gene ID:15894] is located on chromosome 20p13. 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] [NCBI Gene ID:80025] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- PANK2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-08-08
- Construct for LOINC Short Name
- PANK2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PANK2 基因 Synonyms: FLJ11729; |
| et-EE | Estonian (Estonia) | PANK2 geen |
| es-ES | Spanish (Spain) | Gen PANK2 |
| it-IT | Italian (Italy) | PANK2, gene Synonyms: Gene PANK2 |
| tr-TR | Turkish (Turkey) | PANK2 geni |
| ru-RU | Russian (Russian Federation) | PANK2 ген |
| nl-NL | Dutch (Netherlands) | PANK2-gen Synonyms: PANK2 gen |
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