LP33046-1
MTM1 gene
Active
Description
The MTM1 gene (myotubularin 1) [HGNC Gene ID:7448] is located on chromosome Xq28. This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4534] 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
- MTM1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-12-16
- Construct for LOINC Short Name
- MTM1 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/$lookup?system=http: //loinc.org&code=LP33046-1 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP33046-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MTM1 基因 Synonyms: Central nuclear myopathy 1; |
| et-EE | Estonian (Estonia) | MTM1 geen |
| es-ES | Spanish (Spain) | Gen MTM1 |
| it-IT | Italian (Italy) | MTM1, gene Synonyms: Gene MTM1 |
| tr-TR | Turkish (Turkey) | MTM1 geni |
| ru-RU | Russian (Russian Federation) | MTM1 ген |
| nl-NL | Dutch (Netherlands) | MTM1-gen Synonyms: MTM1 gen |
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