LEMD3 Antibody – Rabbit Polyclonal

This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

MAN1: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest. Defects in LEMD3 are the cause of Buschke-Ollendorff syndrome (BOS); also known as dermatoosteopoikilosis or disseminated dermatofibrosis with osteopoikilosis or dermatofibrosis lenticularis disseminata with osteopoikilosis or osteopathia condensans disseminata. BOS refers to the association of osteopoikilosis with disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Both elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. Defects in LEMD3 are a cause of melorheostosis (MEL). Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur.

Protein type: Membrane protein, integral; Nuclear envelope; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 12q14

Cellular Component: membrane; integral to membrane; nuclear inner membrane; integral to nuclear inner membrane

Molecular Function: protein binding; DNA binding; nucleotide binding

Biological Process: blood vessel endothelial cell migration during intussusceptive angiogenesis; negative regulation of activin receptor signaling pathway; regulation of cell cycle; negative regulation of transforming growth factor beta receptor signaling pathway; nuclear organization and biogenesis; negative regulation of BMP signaling pathway

Disease: Buschke-ollendorff Syndrome; Melorheostosis, Isolated