LP63485-4
POLG gene
Active
Description
The POLG gene (polymerase (DNA directed), gamma) [HGNC Gene ID:9179] is located on chromosome 15q25. Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5428] 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 Name
- POLG gene
- Part Display Name
- POLG gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-04-19
- Construct for LOINC Short Name
- POLG gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | POLG 基因 Synonyms: MDP1; |
| et-EE | Estonian (Estonia) | POLG geen |
| es-ES | Spanish (Spain) | Gen POLG |
| it-IT | Italian (Italy) | POLG, gene Synonyms: Gene POLG |
| tr-TR | Turkish (Turkey) | POLG geni |
| ru-RU | Russian (Russian Federation) | POLG ген |
| nl-NL | Dutch (Netherlands) | POLG-gen Synonyms: POLG gen |
| fr-FR | French (France) | POLG gène |
| pl-PL | Polish (Poland) | POLG gen Synonyms: Gen POLG |
| el-GR | Greek (Greece) | Γονίδιο POLG Synonyms: Γονίδιο POLG |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://