Aliases for LEMD3 Gene
External Ids for LEMD3 Gene
Previous GeneCards Identifiers for LEMD3 Gene
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]
GeneCards Summary for LEMD3 Gene
LEMD3 (LEM Domain Containing 3) is a Protein Coding gene. Diseases associated with LEMD3 include Buschke-Ollendorff Syndrome and Melorheostosis With Osteopoikilosis. Among its related pathways are Nuclear Envelope Reassembly and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is LEMD2.
UniProtKB/Swiss-Prot Summary for LEMD3 Gene
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.