Version 2.80

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 Name
PEO gene
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
es-ES Spanish (Spain) Gen PEO
it-IT Italian (Italy) PEO, gene
Synonyms: Gene PEO
et-EE Estonian (Estonia) PEO geen
tr-TR Turkish (Turkey) PEO geni
ru-RU Russian (Russian Federation) PEO ген
nl-NL Dutch (Netherlands) PEO-gen
Synonyms: PEO gen
el-GR Greek (Greece) Γονίδιο PEO
Synonyms: Γονίδιο PEO