Laminin, alpha 3

Laminin subunit alpha-3 is a protein that in humans is encoded by the LAMA3 gene.^[5][6]

LAMA3
Identifiers
Aliases	LAMA3, BM600, E170, LAMNA, LOCS, lama3a, Laminin, alpha 3, laminin subunit alpha 3, JEB2B, JEB2A, JEB2C
External IDs	OMIM: 600805; MGI: 99909; HomoloGene: 18279; GeneCards: LAMA3; OMA:LAMA3 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q11.2 Start 23,689,453 bp[1] End 23,956,222 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 A1|18 6.2 cM Start 12,466,876 bp[2] End 12,716,070 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lung skin of leg periodontal fiber skin of abdomen mucosa of sigmoid colon jejunal mucosa decidua sural nerve upper lobe of left lung minor salivary glands Top expressed in molar corneal stroma left lung lobe right lung lobe transitional epithelium of urinary bladder skin of external ear conjunctival fornix left colon ileum skin of back More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling receptor binding structural molecule activity extracellular matrix structural constituent integrin binding Cellular component extracellular region basement membrane laminin-5 complex extracellular exosome extracellular matrix endoplasmic reticulum collagen-containing extracellular matrix Biological process hemidesmosome assembly cell adhesion extracellular matrix disassembly regulation of cell adhesion extracellular matrix organization regulation of cell migration endodermal cell differentiation regulation of embryonic development epidermis development morphogenesis of a polarized epithelium integrin-mediated signaling pathway animal organ morphogenesis tissue development cell migration cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3909 16774 Ensembl ENSG00000053747 ENSMUSG00000024421 UniProt Q16787 Q61789 RefSeq (mRNA) NM_000227 NM_001127717 NM_001127718 NM_001302996 NM_198129 NM_010680 NM_001347461 RefSeq (protein) NP_000218 NP_001121189 NP_001121190 NP_001289925 NP_937762 NP_001334390 NP_034810 Location (UCSC) Chr 18: 23.69 – 23.96 Mb Chr 18: 12.47 – 12.72 Mb PubMed search [3] [4]
Wikidata
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Function

Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 chain of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Alternatively spliced transcript variants encoding different isoforms have been identified.

Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes.^[6]

Clinical significance

Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. ^[6]

It may be associated with Laryngoonychocutaneous syndrome.^[7]

Interactions

Laminin, alpha 3 has been shown to interact with SDC2.^[8]