Gene: LAMA3

Alternate names for this Gene: BM600|E170|LAMNA|LOCS

Gene 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q11.2

Description of this Gene: laminin subunit alpha 3

Type of Gene: protein-coding

rs7237244 in LAMA3 gene and Allergic rhinitis (disorder) PMID 25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.

rs11082762 in LAMA3 gene and Amyotrophic Lateral Sclerosis PMID 22959728 2013 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

rs1057516476 in LAMA3 gene and Herlitz Disease PMID 12943669 2003 A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.

PMID 11810295 2002 Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

PMID 16971478 2007 Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

PMID 17362460 2007 Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.

PMID 27827380 2016 Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.

PMID 7633458 1995 A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.

PMID 8530087 1995 A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.

PMID 9160387 1997 Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

PMID 8983017 1996 Molecular complexity of the cutaneous basement membrane zone.

PMID 8618022 1996 A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

PMID 15373767 2004 Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

PMID 27375110 2016 Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16473856 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

PMID 22434185 2012 Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa.

rs12373237 in LAMA3 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs8098244 in LAMA3 gene and Ovarian Serous Adenocarcinoma PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

rs556443619 in LAMA3 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs112389236 in LAMA3 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8098244 in LAMA3 gene and ovarian neoplasm PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.