MESD

MESD (Mesoderm Development LRP Chaperone) is a Protein Coding gene. Diseases associated with MESD include Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2. Among its related pathways are Wnt / Hedgehog / Notch.

Full Name

Mesoderm Development LRP Chaperone

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).

Biological Process

Mesoderm development Source: UniProtKB
Ossification Source: UniProtKB
Phagocytosis Source: UniProtKB
Positive regulation of skeletal muscle acetylcholine-gated channel clustering Source: UniProtKB
Protein folding Source: UniProtKB
Protein localization to cell surface Source: UniProtKB
Wnt signaling pathway Source: UniProtKB-KW

Cellular Location

Endoplasmic reticulum
Note: Released from apoptotic cells and shed photoreceptor outer segments.

Involvement in disease

Osteogenesis imperfecta 20 (OI20):
An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder 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.