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LAMA3 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 LAMA3 are a cause of epidermolysis bullosa junctional Herlitz type (H-JEB); also known as junctional epidermolysis bullosa Herlitz-Pearson type. JEB defines a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement membrane. H-JEB is a severe, infantile and lethal form. Death occurs usually within the first six months of life. Occasionally, children survive to teens. H-JEB is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. Defects in LAMA3 are the cause of laryngoonychocutaneous syndrome (LOCS). LOCS is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 18q11.2
Cellular Component: basement membrane; extracellular region
Biological Process: epidermis development; extracellular matrix disassembly; extracellular matrix organization and biogenesis; hemidesmosome assembly
Disease: Epidermolysis Bullosa, Junctional, Herlitz Type; Epidermolysis Bullosa, Junctional, Non-herlitz Type; Laryngoonychocutaneous Syndrome
Reference #:  Q16787 (UniProtKB)
Alt. Names/Synonyms: BM600; BM600 150kD subunit; E170; Epiligrin 170 kDa subunit; epiligrin alpha 3 subunit; Epiligrin subunit alpha; kalinin 165kD subunit; Kalinin subunit alpha; LAMA3; lama3a; Laminin subunit alpha-3; laminin, alpha 3; laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin); laminin-5 alpha 3 chain; Laminin-5 subunit alpha; Laminin-6 subunit alpha; Laminin-7 subunit alpha; LAMNA; LOCS; nicein 150kD subunit; Nicein subunit alpha
Gene Symbols: LAMA3
Molecular weight: 366,649 Da
Basal Isoelectric point: 7.03  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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