Gene: LOC102723409

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs12205363 in LOC102723409;LAMA2 gene and Abnormality of refraction PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

rs2571573 in LOC102723409;LAMA2 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs914395925 in LOC102723409;LAMA2 gene and Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency PMID 24225367 2014 High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.

PMID 30055037 2018 LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

rs12205363 in LOC102723409;LAMA2 gene and Refractive Errors PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.