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The official name of this gene is “laminin, alpha 2.”
LAMA2 is the gene's official symbol. The LAMA2 gene is also known by other names, listed below.
The LAMA2 gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene. The LAMA2 gene provides instructions for the alpha-2 subunit. This subunit, together with the beta-1 and gamma-1 subunits, forms the laminin 2 protein, also known as merosin or laminin-211. The alpha-2 subunit, along with the beta-2 and gamma-1 subunits, also forms another laminin called laminin 4, sometimes known as laminin-221.
Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). There, the laminins help regulate cell growth, cell movement (motility), and the attachment of cells to one another (adhesion). They are also involved in the formation and organization of basement membranes, which are thin, sheet-like structures within the extracellular matrix that separate and support cells in many tissues. Laminin 2 and laminin 4 play a particularly important role in the muscles used for movement (skeletal muscles). The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers.
The LAMA2 gene belongs to a family of genes called LAM (laminins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
More than 100 LAMA2 gene mutations have been identified in individuals with LAMA2-related muscular dystrophy, a disorder that causes weakness and wasting (atrophy) of skeletal muscles. This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form. Most LAMA2 gene mutations that cause early-onset LAMA2-related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. Mutations that cause late-onset LAMA2-related muscular dystrophy usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. Deficiency or absence of the laminin alpha-2 subunit results in a corresponding lack of laminin 2 and laminin 4, reducing the strength and stability of muscle tissue and leading to the signs and symptoms of LAMA2-related muscular dystrophy.
Cytogenetic Location: 6q22-q23
Molecular Location on chromosome 6: base pairs 128,883,140 to 129,516,568
The LAMA2 gene is located on the long (q) arm of chromosome 6 between positions 22 and 23.
More precisely, the LAMA2 gene is located from base pair 128,883,140 to base pair 129,516,568 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about LAMA2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
atrophy ; basement membranes ; cell ; deficiency ; extracellular ; extracellular matrix ; gene ; muscle cells ; muscular dystrophy ; precursor ; protein ; subunit ; tissue ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.