MMP19 Chromosome 12
Matrix metallopeptidase 19
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What This Gene Does
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. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
M10 matrix metallopeptidases
Locus Type
gene with protein product
Location
12q13.2
Ensembl
ENSG00000123342
Associated Conditions (1)
Familial cavitary optic disk anomaly
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145356388 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767415935 | Health Risk | Conflicting classifications of pathogenicity | Familial cavitary optic disk anomaly, Familial cavitary optic disk anomaly |