MESD

Chr 15q25.1

mesoderm development LRP chaperone

Aliases:: KIAA0081, BOCA
MANE:: ENST00000261758.6

OMIM: 607783 ↗NCBI: 23184 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MESD · Q14696

v62025-08-01

Predicted Aligned Error matrix for MESD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.1/ 100

Low

234 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)14%
Low(50–70)36%
Very low(< 50)24%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

osteogenesis imperfecta, type 20
0.71
osteogenesis imperfecta
0.46
Abnormality of the skeletal system
0.42
osteogenesis imperfecta type 2
0.37
Hernia of the abdominal wall
0.21
liver disorder
0.08
colorectal carcinoma
0.05
cancer
0.03
ovarian dysfunction
0.03
femoral neck fracture
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

LRP chaperone MESD

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, PubMed:23572575). 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)