Function
Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.
Biological Context
Subcellular Location: Secreted
Tissue Specificity: Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders
Disease Association: Multiple epiphyseal dysplasia 5 (EDM5) : A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. [The disease is caused by variants affecting the gene represented in this entry] | Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (SEMDBCD) : An autosomal recessive 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. [The disease is caused by variants affecting the gene represented in this entry] | Osteoarthritis 2 (OS2) : 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. [Disease susceptibility is associated with variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Matrilin-3 (MATN3) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 29-486aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 57.2kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
