MMP19

This gene encodes a member of a family of proteins that 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 protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene.

Full Name

matrix metalloproteinase-19 isoform X2

Function

Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin.

Biological Process

Angiogenesis Source: UniProtKB-KW
Cell differentiation Source: UniProtKB-KW
Collagen catabolic process Source: GO_Central
Extracellular matrix disassembly Source: Reactome
Extracellular matrix organization Source: GO_Central
Luteolysis Source: Ensembl
Ovarian follicle development Source: Ensembl
Ovulation from ovarian follicle Source: Ensembl
Proteolysis Source: UniProtKB
Response to cAMP Source: Ensembl
Response to hormone Source: Ensembl

Cellular Location

Extracellular matrix

Involvement in disease

Cavitary optic disc anomalies (CODA):
An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss.

PTM

Activated by autolytic cleavage after Lys-97.
Tyrosine phosphorylated by PKDCC/VLK.