Gene Symbol | LEMD3 |
Entrez Gene ID | 23592 |
Full Name | LEM domain containing 3 |
Synonyms | MAN1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Osteopoikilosis with or without melorheostosis, 166700 (3); Buschke-Ollendorff syndrome, 166700 (3) |