MATN3 Antibody – Rabbit Polyclonal

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

MATN3: Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks. Defects in MATN3 are the cause of multiple epiphyseal dysplasia type 5 (EDM5). EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. Defects in MATN3 are the cause of spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3). A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies. Genetic variations in MATN3 are associated with susceptibility to osteoarthritis type 2 (OS2); also called osteoarthritis of distal interphalangeal joints (OADIP) or hand osteoarthritis (HOA). Osteoarthritis is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites affected.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 2p24-p23

Cellular Component: proteinaceous extracellular matrix; extracellular region

Molecular Function: protein binding; extracellular matrix structural constituent

Biological Process: extracellular matrix organization and biogenesis; skeletal development

Disease: Osteoarthritis Susceptibility 2; Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related; Epiphyseal Dysplasia, Multiple, 5