Protein Name | LEM domain containing 3 |
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Organism | Homo sapiens |
Gene ID | 23592 |
Gene Symbol | LEMD3 |
UniProt | Q9Y2U8 (MAN1_HUMAN), A0A024RBB9 (A0A024RBB9_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
44
Total Number of Articles : 31 |
Description |
LEM domain containing 3 |
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.[provided by RefSeq, Nov 2009] |
synonyms |
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Properties | |