Version 2.77

Description

The PEO gene (polymerase (DNA directed), gamma) gene 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

Basic Part Properties

Part Display Name
PEO gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-16
Construct for LOINC Short Name
PEO gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33181-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33181-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PEO 基因
Synonyms: 渐进式外眼肌瘫痪;进行性外眼肌麻痹;进行性眼外肌瘫痪;进行性眼外肌麻痹
et-EE Estonian (Estonia) PEO geen
es-ES Spanish (Spain) Gen PEO
it-IT Italian (Italy) PEO, gene
Synonyms: Gene PEO
tr-TR Turkish (Turkey) PEO geni
ru-RU Russian (Russian Federation) PEO ген
nl-NL Dutch (Netherlands) PEO-gen
Synonyms: PEO gen