LEMD3

This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane.

LEM DOMAIN CONTAINING 3

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.

Negative regulation of activin receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of BMP signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of transforming growth factor beta receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Nuclear envelope organizationManual Assertion Based On ExperimentIBA:GO_Central
Regulation of intracellular signal transductionIEA:InterPro

Nucleus inner membrane

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.