Gene: LAMA2

Alternate names for this Gene: LAMM|MDC1A

Gene Summary: Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.33

Description of this Gene: laminin subunit alpha 2

Type of Gene: protein-coding

Gene: LOC102723409

Alternate names for this Gene:

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rs12193446 in LAMA2;LOC102723409 gene and Hyperopia PMID 25233373 2014 Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

rs749797580 in LAMA2;LOC102723409 gene and Muscular dystrophy congenital, merosin negative PMID 10619025 1999 The crystal structure of a laminin G-like module reveals the molecular basis of alpha-dystroglycan binding to laminins, perlecan, and agrin.

PMID 10747011 2000 Structure of the C-terminal laminin G-like domain pair of the laminin alpha2 chain harbouring binding sites for alpha-dystroglycan and heparin.

PMID 10022829 1999 Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

rs12193446 in LAMA2;LOC102723409 gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs12193446 in LAMA2;LOC102723409 gene and Ocular axial length PMID 24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.