| LEM domain containing protein 3 | |
|---|---|
| Identifiers | |
| Symbol | LEMD3 |
| Alt. symbols | MAN1 |
| Entrez | 23592 |
| HUGO | 28887 |
| OMIM | 607844 |
| RefSeq | NM_014319 |
| UniProt | Q9Y2U8 |
| Other data | |
| Locus | Chr. 12 q14 |
LEM domain-containing protein 3 is a membrane protein associated with laminopathies.
It is also associated with osteopoikilosis.[1]
LEMD3 protein, also known as MAN1, is an inner nuclear membrane (INM) protein that was isolated from the serum of a patient with an autoimmune disease (Paulin-Levasseur et al., 1996). It was first named MAN1, however, the scientific community also knows it as the LEMD3 protein (LEM domain containing protein 3). MAN1 is an integral protein of the nuclear envelope. It has a LEM domain in its amino-terminal region and a recognition-RNA motif (RRM) in its carboxylic end.
MAN1 seems to play an important role in regulating the expression of several fundamental genes. The LEM region is a 40 amino acid domain that is common to two other integral proteins of the INM: LAP2 and EMERIN. This LEM segment enables MAN1 to attach to BAF (barrier-autointegration factor), and therefore, indirectly interact with the chromatin. MAN1 also has several implications in regulating the cytokine family such as TGF(transforming growth factor)-beta and BMP (bone morphogenic protein). The RRM domain in its carboxylic region attaches to the Smads proteins, the mediators of the cytokine family cellular signalling, and consequently, regulates the downstream genes.
LEMD3 gene mutations are responsible for several genetic diseases such as osteopoikilosis, melorheostosis and Buschke-Ollendorff syndrome.