LEMD3
Function
Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.
Involvement in disease
Buschke-Ollendorff syndrome
BOS
A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Heart, brain, placenta, lung, liver and skeletal muscle.
Cellular localization
- Nucleus inner membrane
- Multi-pass membrane protein
Alternative names
MAN1, LEMD3, Inner nuclear membrane protein Man1, LEM domain-containing protein 3