MESD
entrez
23184
canonical
uniprot
Q14696
canonical
ensembl
ENSG00000117899
resolver
ensp
ENSP00000261758
resolver
genesymbol
MESD
resolver
genesymbol_syn
KIAA0081
resolver
genesymbol_syn
MESDC2
resolver
genesymbol_syn
MESDM
resolver
hgnc
HGNC:13520
resolver
uniprot
B4DW84
resolver
uniprot
D3DW96
resolver
uniprot
Q969U1
resolver
uniprot_entry
MESD_HUMAN
resolver
uniprot_sec
B4DW84
resolver
uniprot_sec
D3DW96
resolver
uniprot_sec
Q969U1
resolver
amino_acid_sequence
MAASRWARKAVVLLCASDLLLLLLLLPPPGSCAAEGSPGTPDESTPPPRKKKKDIRDYNDADMARLLEQWEKDDDIEEGDLPEHKRPSAPVDFSKIDPSKPESILKMTKKGKTLMMFVTVSGSPTEKETEEITSLWQGSLFNANYDVQRFIVGSDRAIFMLRDGSYAWEIKDFLVGQDRCADVTLEGQVYPGKGGGSKEKNKTKQDKGKKKKEGDLKSRSSKEENRAGNKREDL
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 20 (OI20) [MIM:618644]: 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. {ECO:0000269|PubMed:31564437}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, 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). {ECO:0000250|UniProtKB:Q9ERE7, ECO:0000269|PubMed:15014448, ECO:0000269|PubMed:17488095, ECO:0000269|PubMed:23572575}.
uniprot
proteins
mass_dalton
26077
uniprot
proteins
protein_family
MESD family
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15014448
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17488095
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23572575
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31564437
uniprot
proteins
pubmed
7788527
uniprot
proteins
sequence_length
234
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:15014448, ECO:0000269|PubMed:17488095}. Note=Released from apoptotic cells and shed photoreceptor outer segments. {ECO:0000250|UniProtKB:Q9ERE7}.
uniprot
proteins