基因名:
LEMD3
产品别名:
MAN1; LEMD3; LEM domain containing 3; LEM domain containing 3; inner nuclear membrane protein Man1; LEM domain-containing protein 3; LEMD3/MKX fusion; MAN antigen 1; integral inner nuclear membrane protein; 内核膜蛋白MAN1;
背景信息:
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]