LP33146-9
LMNA gene
Active
Description
The LMNA gene (lamin A/C) [HGNC Gene ID:6636] is located on chromosome 1q22. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012] [NCBI Gene ID:4000] 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
- LMNA gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-10
- Construct for LOINC Short Name
- LMNA gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP33146-9 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP33146-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | LMA 基因 Synonyms: Charcot-Marie Tooth 病, 轴突性, 2B1 型; |
| et-EE | Estonian (Estonia) | LMNA geen |
| es-ES | Spanish (Spain) | Gen LMNA |
| it-IT | Italian (Italy) | LMNA, gene Synonyms: Gene LMNA |
| tr-TR | Turkish (Turkey) | LMNA geni |
| ru-RU | Russian (Russian Federation) | LMNA ген |
| nl-NL | Dutch (Netherlands) | LMNA-gen Synonyms: LMNA gen |
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