Version 2.77

Description

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Source: 3M Health Information Systems,

Basic Part Properties

Part Display Name
PEX2 gene targeted mutation analysis
Part Type
Component (Describes the core component or analyte measured)
Created On
2023-04-24
Construct for LOINC Short Name
PEX2 Mut Anl

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP435234-2