LP32673-3
MPZ gene
Active
Description
The MPZ gene (myelin protein zero) [HGNC Gene ID:7225] is located on chromosome 1q23.3. This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. [provided by RefSeq, Apr 2010] [NCBI Gene ID:4359] 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 Name
- MPZ gene
- Part Display Name
- MPZ gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-10-23
- Construct for LOINC Short Name
- MPZ gene
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/$lookup?system=http: //loinc.org&code=LP32673-3 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP32673-3
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | MPZ 基因 Synonyms: Charcot-Marie-Tooth 神经病 1B; |
et-EE | Estonian (Estonia) | MPZ geen |
es-ES | Spanish (Spain) | Gen MPZ |
it-IT | Italian (Italy) | MPZ, gene Synonyms: Gene MPZ |
tr-TR | Turkish (Turkey) | MPZ geni |
ru-RU | Russian (Russian Federation) | MPZ ген |
nl-NL | Dutch (Netherlands) | MPZ-gen Synonyms: MPZ gen |
LOINC Copyright
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