MFAP5
Function
May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636).
Involvement in disease
Aortic aneurysm, familial thoracic 9
AAT9
A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Forms intermolecular disulfide bonds either with other MAGP-2 molecules or with other components of the microfibrils.
N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. O-glycan heterogeneity at Thr-54: HexHexNAc (major) and HexHexNAc + sulfate (minor).
Sequence Similarities
Belongs to the MFAP family.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
MAGP2, MFAP5, Microfibrillar-associated protein 5, MFAP-5, MP25, Microfibril-associated glycoprotein 2, MAGP-2