功能： disease:Defects in MATN3 are the cause of multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]. 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.,disease:Defects in MATN3 are the cause of spondyloepimetaphyseal dysplasia bowed-legs type (SEMD bowed-legs type) [MIM:608728]; also known as matrilin-3 related SEMD. Affected individuals show 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. SEMD bowed-legs type inheritance is autosomal recessive.,disease:Genetic variations in MATN3 are associated with osteoarthritis susceptibility type 2 (OS2) [MIM:140600]; also called osteoarthritis of distal interphalangeal joints (OADIP) or hand osteoarthritis (HOA). 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.,function:Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.,similarity:Contains 1 VWFA domain.,similarity:Contains 4 EGF-like domains.,subunit:Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1.,tissue specificity:Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted .
组织表达： Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.
功能： disease:Defects in MATN3 are the cause of multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]. 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.,disease:Defects in MATN3 are the cause of spondyloepimetaphyseal dysplasia bowed-legs type (SEMD bowed-legs type) [MIM:608728]; also known as matrilin-3 related SEMD. Affected individuals show 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. SEMD bowed-legs type inheritance is autosomal recessive.,disease:Genetic variations in MATN3 are associated with osteoarthritis susceptibility type 2 (OS2) [MIM:140600]; also called osteoarthritis of distal interphalangeal joints (OADIP) or hand osteoarthritis (HOA). 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.,function:Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.,similarity:Contains 1 VWFA domain.,similarity:Contains 4 EGF-like domains.,subunit:Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1.,tissue specificity:Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted .
组织表达： Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.
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