LAMA2

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. [provided by RefSeq]

laminin, alpha 2

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Animal organ morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Axon guidanceManual Assertion Based On ExperimentIBA:GO_Central
Cell adhesionIEA:UniProtKB-KW
Maintenance of blood-brain barrier1 PublicationNAS:ARUK-UCL
Muscle organ developmentManual Assertion Based On ExperimentTAS:ProtInc
Positive regulation of synaptic transmission, cholinergicIEA:Ensembl
Regulation of cell adhesionIEA:InterPro
Regulation of cell migrationIEA:InterPro
Regulation of embryonic developmentIEA:InterPro
Tissue developmentManual Assertion Based On ExperimentIBA:GO_Central

Secreted, extracellular space, extracellular matrix, basement membrane
Major component.

Merosin-deficient congenital muscular dystrophy 1A (MDC1A):
Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI.
Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23):
A form of autosomal recessive limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDR23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs, increased serum creatine kinase, dystrophic features, gait difficulties, and white matter abnormalities on brain imaging. Age at onset generally ranges from childhood to mid-adulthood. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy.