LAMA3 laminin subunit alpha 3
Gene ID: 3909, updated on 7-Apr-2024Gene type: protein coding
Also known as: E170; LOCS; BM600; JEB2A; JEB2B; JEB2C; LAMNA
- See all available tests in GTR for this gene
- Go to complete Gene record for LAMA3
- Go to Variation Viewer for LAMA3 variants
Summary
The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. GeneReviews: Not available | |
| Epidermolysis bullosa, junctional 2A, intermediate | See labs |
| Epidermolysis bullosa, junctional 2B, severe | See labs |
| Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. GeneReviews: Not available | |
| Junctional epidermolysis bullosa gravis of Herlitz | See labs |
| Laryngo-onycho-cutaneous syndrome | See labs |
Genomic context
- Location:
- 18q11.2
- Sequence:
- Chromosome: 18; NC_000018.10 (23689453..23955066)
- Total number of exons:
- 79
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LAMA3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LAMA3 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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