MESD
Domain
The chaperone domain provides a folding template for proper folding of the beta-propeller (BP) domains of LRP5/6.
The escort domain ensures LRP5/6 safe-trafficking from the ER to the Golgi by preventing premature ligand-binding.
Function
Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs) (PubMed:15014448). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane (PubMed:17488095). Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By similarity).
Involvement in disease
Osteogenesis imperfecta 20
OI20
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI20 is a progressive deforming form characterized by osteopenia, skeletal deformity, healed fractures, and newly-acquired fractures. Death due to respiratory failure can occur in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MESD family.
Cellular localization
- Endoplasmic reticulum
- Released from apoptotic cells and shed photoreceptor outer segments.
Alternative names
KIAA0081, MESDC2, MESDM, UNQ1911/PRO4369, MESD, LRP chaperone MESD, LDLR chaperone MESD, Mesoderm development LRP chaperone MESD, Mesoderm development candidate 2, Mesoderm development protein, Renal carcinoma antigen NY-REN-61