Entrez gene ID | | 23592 |
Official gene symbol | | LEMD3 |
Full name | | LEM domain containing 3 |
Aliases | | ,MAN1, |
Gene summary | | 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. |
Location | | Chromosome: 12 Locus: 12q14 |
Gene position | | 65563351 - 65642141 Map Viewer |
Gene orientation | | plus |
Gene size | | 78791 bp |
Gene sequence |
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OMIM ID | | 607844 |
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