Collagenase 3 (MMP13) Antibody – Rabbit Polyclonal

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

MMP13: Degrades collagen type I. Does not act on gelatin or casein. Could have a role in tumoral process. Defects in MMP13 are the cause of spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO). A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. Defects in MMP13 are the cause of metaphyseal anadysplasia type 1 (MANDP1). Metaphyseal anadysplasia consists of an abnormal bone development characterized by severe skeletal changes that, in contrast with the progressive course of most other skeletal dysplasias, resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. Belongs to the peptidase M10A family.

Protein type: EC 3.4.24.-; Protease; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 11q22.3

Cellular Component: extracellular region; extracellular space; Golgi apparatus; intercellular canaliculus; lysosome; proteinaceous extracellular matrix

Molecular Function: calcium ion binding; calcium-dependent protein binding; collagen binding; fibronectin binding; low-density lipoprotein receptor binding; metalloendopeptidase activity; zinc ion binding

Biological Process: bone mineralization; cellular protein metabolic process; collagen catabolic process; embryonic hindlimb morphogenesis; endochondral ossification; extracellular matrix disassembly; extracellular matrix organization and biogenesis; heart development; luteolysis; osteoblast differentiation; parturition; peptide catabolic process; proteolysis; response to drug; response to estrogen stimulus; response to hypoxia; response to mechanical stimulus

Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type