Version 2.78

Description

The PMP22 gene (peripheral myelin protein 22) [HGNC Gene ID:9118] is located on chromosome 17p12. This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] [NCBI Gene ID:5376] 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 Display Name
PMP22 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
PMP22 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19757-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19757-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PMP22 基因
Synonyms: Charcot-Marie-Tooth 病;CMT;CMT1A;Dejerine-Sottas 综合征;GAS3;HNPP;PMP-22;Sp110;外周髓鞘蛋白 22;易压迫性麻痹之遗传性神经病变;生长停滞特异性基因 3;腓骨肌萎缩症;遗传性压力敏感性周围神经病;遗传性压力易感性神经病变;遗传性压迫易感性神经病
et-EE Estonian (Estonia) PMP22 geen
es-ES Spanish (Spain) Gen PMP22
it-IT Italian (Italy) PMP22, gene
Synonyms: Gene PMP22
tr-TR Turkish (Turkey) PMP22 geni
ru-RU Russian (Russian Federation) PMP22 ген
nl-NL Dutch (Netherlands) PMP22-gen
Synonyms: PMP22 gen