LP34682-2
LAMA2 gene
Active
Description
The LAMA2 gene (laminin, alpha 2) [HGNC Gene ID:6482] is located on chromosome 6q22-q23. Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3908] 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
- LAMA2 gene
- Part Display Name
- LAMA2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-10-28
- Construct for LOINC Short Name
- LAMA2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP34682-2 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP34682-2
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | LAMA2 基因 Synonyms: Laminin M; |
| et-EE | Estonian (Estonia) | LAMA2 geen |
| es-ES | Spanish (Spain) | Gen LAMA2 |
| it-IT | Italian (Italy) | LAMA2, gene Synonyms: Gene LAMA2 |
| tr-TR | Turkish (Turkey) | LAMA2 geni |
| ru-RU | Russian (Russian Federation) | LAMA2 ген |
| nl-NL | Dutch (Netherlands) | LAMA2-gen Synonyms: LAMA2 gen |
LOINC Copyright
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