LAMB3 gene encodes for laminin protein which belongs to a family of basement membrane proteins. It is a beta subunit laminin, which binds by disulfide bonds with an alpha and a gamma subunit to form laminin-332 (laminin-5). Laminin has several functions; it regulates cell growth, cell movement, and the attachment of cells to one another, involves in the formation and organization of basement membranes, and is also important for wound healing.
Nakano et al. (2002) have screened LAMB3, LAMC2, LAMA3 and COL17A1 genes in seven consanguineous families affected with junctional epidermolysis bullosa disease from the Middle East during the period of 1998-1999; three of the families were Palestinian, including one living in the UAE. Compound heterozygous mutations in LAMB3 gene were detected in the affected child; the first one was a 1bp insertion 1296inA, while the second one was a Q46X frame shift mutation.
[See: Palestine > Nakano et al., 2002].
Nakano et al. (2002) detected a homozygous 1-bp deletion 1942delG in LAMB3 gene causing a frame shift mutation in a Yemeni patient from a consanguineous family affected with junctional epidermolysis bullosa.