MGP Database

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MGP001795

UniProt Annotations

Entry Information
Gene Namelaminin, beta 3
Protein EntryLAMB3_HUMAN
UniProt IDQ13751
SpeciesHuman
Comments
Comment typeDescription
DiseaseEpidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]: An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo- epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. {ECO:0000269|PubMed:7550237}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseGeneralized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269|PubMed:17476356, ECO:0000269|PubMed:9767254}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainDomain VI is globular.
DomainThe alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
FunctionBinding 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.
SimilarityContains 1 laminin N-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00466}.
SimilarityContains 6 laminin EGF-like domains. {ECO:0000255|PROSITE-ProRule:PRU00460}.
Subcellular LocationSecreted, extracellular space, extracellular matrix, basement membrane.
SubunitLaminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein). Interacts with ECM1. {ECO:0000269|PubMed:19275936}.
Tissue SpecificityFound in the basement membranes (major component).
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