MMP19 gene

matrix metallopeptidase 19

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Cavitary optic disc anomalies

From UniProt:

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 disc 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. [MIM:611543]

Cytogenetic Location: 12q13.2, which is the long (q) arm of chromosome 12 at position 13.2

Molecular Location: base pairs 55,835,430 to 55,842,983 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.2, which is the long (q) arm of chromosome 12 at position 13.2
  • CODA
  • MMP18
  • RASI-1