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LAMA2 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. Defects in LAMA2 are the cause of merosin-deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI. Note: This description may include information from UniProtKB.
Protein type: Extracellular matrix; Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 6q22.33
Cellular Component: basal lamina; basement membrane; dendritic spine; extracellular matrix; extracellular region; sarcolemma
Molecular Function: receptor binding; structural molecule activity
Biological Process: axon guidance; cell adhesion; extracellular matrix organization; muscle organ development; positive regulation of synaptic transmission, cholinergic; regulation of cell adhesion; regulation of cell migration; regulation of embryonic development; Schwann cell differentiation
Disease: Muscular Dystrophy, Congenital Merosin-deficient, 1a
Reference #:  P24043 (UniProtKB)
Alt. Names/Synonyms: LAMA2; Laminin M chain; Laminin subunit alpha-2; laminin, alpha 2; Laminin-12 subunit alpha; Laminin-2 subunit alpha; Laminin-4 subunit alpha; LAMM; Merosin heavy chain
Gene Symbols: LAMA2
Molecular weight: 343,905 Da
Basal Isoelectric point: 6.01  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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