Inferred by orthology to human genes with DO annotation (HGNC:21244)
Disease_relevance
Mutations in the human ortholog of lem-2, LEMD3, which encodes the MAN1 nuclear membrane protein, are found in Buschke-Ollendorff syndrome, Melorheostosis and Osteopoikilosis; MAN1 belongs to the family of LEM domain proteins that bind lamin and include nuclear lamina proteins like Emerin, LEM2/NET25, and several others; much of the knowledge of the organization and assembly of the nuclear lamina has come from studies in elegans; studies in elegans have demonstrated the overlapping roles of emerin and LEM-2 in embryogenesis, cell proliferation, lamin and heterochromatin organization; worm emerin and lem-2 are also involved in mitosis, smooth and striated muscle function, lifespan and meiotic progression, pointing to the many underlying processes that may affect disease phenotypes.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.