Sequence in raw or FASTA format:
LAMB3 laminin, beta 3 [Homo sapiens (human)]
|Entrez Gene ID||3914|
|Full Name||laminin, beta 3|
|Synonyms||BM600-125KDA, LAM5, LAMNB1|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008].|
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);
|hsa05222||Small cell lung cancer|
|hsa05200||Pathways in cancer|
|hsa04151||PI3K-Akt signaling pathway|
|WP244||Alpha6-Beta4 Integrin Signaling Pathway|
|REACT_20537||Type I hemidesmosome assembly|
|REACT_20676||Cell junction organization|
|REACT_118572||Degradation of the extracellular matrix|
|REACT_118779||Extracellular matrix organization|
|REACT_163874||Non-integrin membrane-ECM interactions|
|REACT_150180||Assembly of collagen fibrils and other multimeric structures|
|REACT_150268||Anchoring fibril formation|
|Homo sapiens (human)||LAMB3||NP_001017402.1|
|Pan troglodytes (chimpanzee)||LAMB3||XP_003949737.1|
|Macaca mulatta (Rhesus monkey)||LAMB3||XP_002802197.1|
|Canis lupus familiaris (dog)||LAMB3||XP_005622385.1|
|Bos taurus (cattle)||LAMB3||NP_001075065.1|
|Mus musculus (house mouse)||Lamb3||NP_001264857.1|
|Rattus norvegicus (Norway rat)||Lamb3||NP_001094311.1|
|Gallus gallus (chicken)||LAMB3||XP_425827.3|
|Xenopus (Silurana) tropicalis (western clawed frog)||lamb3||XP_002933550.2|
|GO:0022617||extracellular matrix disassembly||TAS|
|GO:0030198||extracellular matrix organization||TAS|
|GO:0034329||cell junction assembly||TAS|
|GO:0050873||brown fat cell differentiation||IEA|
|GO:0005198||structural molecule activity||NAS|
|GO:0032403||protein complex binding||IEA|
What is the normal function of the LAMB3 gene?
The LAMB3 gene provides instructions for making one part (subunit) of a protein called laminin 332 (formerly known as laminin 5). This protein is made up of three subunits, called alpha, beta, and gamma. The LAMB3 gene carries instructions for the beta subunit; the alpha and gamma subunits are produced from other genes.
Laminins are a group of proteins that regulate cell growth, cell movement (motility), and the attachment of cells to one another (adhesion). They are also involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Laminin 332 has a particularly important role in the basement membrane that underlies the top layer of skin (the epidermis). This membrane gives strength and resiliency to the skin and creates an additional barrier between the body and its surrounding environment. Laminin 332 is a major component of fibers called anchoring filaments, which connect the two layers of the basement membrane and help hold the skin together.
Studies suggest that laminin 332 also has several other functions. This protein appears to be important for wound healing. Additionally, researchers have proposed roles for laminin 332 in the clear outer covering of the eye (the cornea) and in the development of tooth enamel.
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