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LAMB3 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 LAMB3 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 LAMB3 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB). GABEB is a non- lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 1q32.2
Cellular Component: extracellular region; laminin-5 complex
Molecular Function: protein binding; protein complex binding; structural molecule activity
Biological Process: brown fat cell differentiation; cell adhesion; epidermis development; extracellular matrix disassembly; extracellular matrix organization; hemidesmosome assembly
Disease: Amelogenesis Imperfecta, Type Ia; Epidermolysis Bullosa, Junctional, Herlitz Type; Epidermolysis Bullosa, Junctional, Non-herlitz Type
Reference #:  Q13751 (UniProtKB)
Alt. Names/Synonyms: BM600-125KDA; Epiligrin subunit bata; FLJ99565; Kalinin B1 chain; Kalinin subunit beta; kalinin-140kDa; LAM5; LAMB3; Laminin B1k chain; laminin S B3 chain; Laminin subunit beta-3; laminin, beta 3; laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)); Laminin-5 subunit beta; LAMNB1; Nicein subunit beta; nicein-125kDa
Gene Symbols: LAMB3
Molecular weight: 129,572 Da
Basal Isoelectric point: 7.14  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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