LP435234-2
PEX2 gene targeted mutation analysis
Active
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
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP435234-2
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright