DefinitionThis section has been translated automatically.
The LAMB3 gene (LAMB3 stands for: Laminin Subunit Beta 3) is a protein coding gene located on chromosome 1q32.2. The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins.
The protein encoded by LAMB3 gene is a beta subunit of laminin, which together with an alpha and a gamma subunit forms laminin-5. Several alternatively spliced transcript variants encoding the same protein have been found for this gene.
General informationThis section has been translated automatically.
Laminins are heterotrimeric molecules composed of alpha, beta, and gamma subunits that assemble via a coiled-coil domain. Laminins are essential for basement membrane formation and function and have additional roles in regulating cell migration and mechanical signal transduction. Laminin binds to cells through a receptor with high affinity. It is thought to mediate cell attachment, migration, and organization in tissues during embryonic development through interaction with other extracellular matrix components.
Clinical pictureThis section has been translated automatically.
Diseases associated with LAMB3 include:
- Epidermolysis bullosa junctionalis generalized severe (Herlitz type)
- Epidermolysis bullosa junctionalis generalized intermediate severe (Non-Herlitz type)
- Epidermolysis bullosa junctionalis localized (Non-Herlitz type)
LiteratureThis section has been translated automatically.
- Kon A et al. (1998) Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. online. Hum Mutat 12: 288.
- Sathyanarayana UG et al (2003) Epigenetic inactivation of laminin-5-encoding genes in lung cancers. Clin Cancer Res 9:2665-2672.
- Stemmler S et al. (2014) Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort. BMC Dermatol. 14:17.
- Tang L et al. (2019) Correlation of LAMA3 with onset and prognosis of ovarian cancer. Oncol Lett 18: 2813-2818.
- Tian C et al. (2021) High expression of LAMA3/AC245041.2 gene pair associated with KRAS mutation and poor survival in pancreatic adenocarcinoma: a comprehensive TCGA analysis. Mol Med 27: 62.
