1. Gene
  2. MESD - mesoderm development LRP chaperone Gene

MESD - mesoderm development LRP chaperone Gene

Homo sapiens

Also known as BOCA; OI20; MESDC2

Gene ID: 23184 | Gene type: protein coding

About MESD

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:80,946,289-80,989,819 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 16.9), placenta (RPKM 10.6) and 25 other tissues.

Summary

Predicted to enable low-density lipoprotein particle receptor binding activity. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Apr 2022]

MESD Products(1)

mRNA Protein Name
NM_015154.3 NP_055969.1 LRP chaperone MESD precursor

MESD Protein Structure

Mesd

Mesd: Chaperone for wingless signalling and trafficking of LDL receptor (51 - 222)

  • 0
  • 100
  • 200
  • 234 a.a.
Protein Preferred Names Protein Names

LRP chaperone MESD

LDLR chaperone MESD

Recombinant MESD Proteins

Cat. No. Product Name Accession Purity
HY-P76492 MESDC2 Protein, Human (HEK293, His) Q14696-1 (A34-K230) ≥95%

Related Diseases

Diseases Alias
Osteogenesis Imperfecta, Type Xx

OI20

Osteogenesis Imperfecta Type 20

Osteogenesis Imperfecta, Type 20

Osteogenesis Imperfecta Type Xx

Osteogenesis Imperfecta 20

Osteogenesis Imperfecta, Type Ii

Vrolik Type Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Type 2

OI2

Oi, Type Ii

Osteogenesis Imperfecta Congenita

Oic

Osteogenesis Imperfecta Type Ii

Lethal Osteogenesis Imperfecta

Oi Type 2

Osteogenesis Imperfecta Congenita Perinatal Lethal Form

Osteogenesis Imperfecta Congenita, Perinatal Lethal Form

Perinatal Lethal Osteogenesis Imperfecta Congenita

Perinatally Lethal Oi

Osteogenesis Imperfecta 2

Oi-Ii

Oi-Iia

Oi Type Iia

Osteogenesis Imperfecta Type Iia

Osteogenesis Imperfecta Type Ii Autosomal Dominant

Oi Type Ii

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Epilepsy, Nocturnal Frontal Lobe, 2

Epilepsy, Nocturnal Frontal Lobe, Type 2

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

ENFL2

Nocturnal Frontal Lobe Epilepsy 2

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin

Osteoporosis-Pseudoglioma Syndrome

OPPG

Ops

Osteoporosis With Pseudoglioma

Osteogenesis Imperfecta, Ocular Form

Ocular Form Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Ocular Form

Osteoporosis Pseudoglioma Syndrome

Pseudoglioma With Bone Fragility

Brittle Cornea Syndrome 1

Brittle Cornea Syndrome

Fragilitas Oculi With Joint Hyperextensibility

Dysgenesis Mesodermalis Corneae Et Sclerae

BCS1

Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility

Ehlers-Danlos Syndrome, Type Vib, Formerly

Eds6b, Formerly

Type Vib Ehlers-Danlos Syndrome

Eds Vib

Ehlers-Danlos Syndrome Type 6b

Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility

Eds6b Formerly

Ehlers-Danlos Syndrome Type Vib Formerly

Ehlers-Danlos Syndrome Type 6

Cornea, Brittle, Syndrome

Cornea, Brittle, Syndrome, Type 1

Ehlers-Danlos Syndrome 6b

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus MESD VGNC VGNC:63452
Mus musculus MESD MGD MGI:1891421
Rattus norvegicus MESD RGD RGD:1310344
Macaca mulatta MESD VGNC VGNC:74507
Bos taurus MESD VGNC VGNC:31392
Others MESD NCBI