GeneID: 248
Names
| Common Name: | LAMA2 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 6 (NC_000006.12) | Locus: | NG_008678.1 (LAMA2) |
| HUGO Symbol: | LAMA2 | Full Name: | laminin subunit alpha 2 |
| Exons: | 65 | Introns: | 64 |
Description:
Laminins are large heterotrimeric proteins involved in cell adhesion and migration via integrins and other cell-surface receptors. They are major components of basement membranes and are synthesized by numerous cell types. Laminins are composed of three chains (alpha, beta and gamma) bound to each other by disulfide bonds. There are 5 alpha, 3 beta, and 3 gamma chains put into different combinations to form more than 12 laminin isoforms. The LAMA2 gene encodes the alpha-2 chain of laminin-2 (merosin; α2β1γ1), the main laminin found in muscle fibers and nerve tissues. Laminin-2 interacts with integrin α3β1 to promote epithelial cell proliferation through the Erk signalling pathway. Mutations in the LAMA2 gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Furthermore, the adhesion of sickle red blood cells to laminin may contribute to painful vaso-occlusive crises in sickle cell disease (SCD). However, there is no evidence to support that laminin α2 chain mediates sickle cell adhesion to laminin. A study reported an association between a LAMA2 variant and leukocytosis in SCD patients.
Synonyms: LAMM
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Wewer UM, Engvall E, Merosin/laminin-2 and muscular dystrophy., Neuromuscul. Disord., 6(6), 409-18, 1996
- Lee SP, Cunningham ML, Hines PC, Joneckis CC, Orringer EP, Parise LV, Sickle cell adhesion to laminin: potential role for the alpha5 chain., Blood, 92(8), 2951-8, 1998
- Dowgiert J, Sosne G, Kurpakus-Wheater M, Laminin-2 stimulates the proliferation of epithelial cells in a conjunctival epithelial cell line., Cell Prolif., 37(2), 161-75, 2004
- Turck N, Gross I, Gendry P, Stutzmann J, Freund JN, Kedinger M, Simon-Assmann P, Launay JF, Laminin isoforms: biological roles and effects on the intracellular distribution of nuclear proteins in intestinal epithelial cells., Exp. Cell Res., 303(2), 494-503, 2005
- Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016