LAMA3


Also found in: Dictionary, Thesaurus.

LAMA3

A gene on chromosome 18q11.2 that encodes laminin alpha 3, an extracellular matrix subunit of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta and gamma) involved in cell adhesion, signal transduction and keratinocyte differentiation.

Molecular pathology
LAMA3 mutations are associated with junctional epidermolysis bullosa (Herlitz type).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
A causative LAMA3 mutation was identified in 15 consanguineous Punjabi families with Shabbir's or LOC syndrome, consisting of a frameshift mutation predicting a stop codon in an exon that is specific to laminin alpha-3a.
Regarding the pathogenesis, most cases of Shabbir's syndrome show a homozygous recessive mutation in LAMA3 gene, leading to the foreshortening of a critical portion of the N terminus of the a3 chain laminin-5 trimer.
Genomics of Epidermolysis Bullosa EB Type Level of Blistering Genes Simplex Basal cell layer KRT5, KRT14 Hemidesmosomal Basal cell/lamina BPAG2, ITGB4, ITGA6 lucida interface (PLEC1 with muscular dystrophy) Junctional Lamina lucida LAMA3, LAMB3, LAMC2 Dystrophic Sublamina densa COL7A1 Source: Dr.