ADAM9
Function
Metalloprotease that cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of cells via interactions with integrins.
Isoform 2
May act as alpha-secretase for amyloid precursor protein (APP).
Involvement in disease
Cone-rod dystrophy 9
CORD9
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proteolytically cleaved in the trans-Golgi network before it reaches the plasma membrane to generate a mature protein. The removal of the pro-domain occurs via cleavage at two different sites. Processed most likely by a pro-protein convertase such as furin, at the boundary between the pro-domain and the catalytic domain. An additional upstream cleavage pro-protein convertase site (Arg-56/Glu-57) has an important role in the activation of ADAM9.
Phosphorylation is induced in vitro by phorbol-12-myristate-13-acetate (PMA).
Tissue Specificity
Widely expressed. Expressed in chondrocytes. Isoform 2 is highly expressed in liver and heart.
Cellular localization
- Isoform 1
- Cell membrane
- Single-pass type I membrane protein
- Isoform 2
- Secreted
Alternative names
KIAA0021, MCMP, MDC9, MLTNG, ADAM9, Disintegrin and metalloproteinase domain-containing protein 9, ADAM 9, Cellular disintegrin-related protein, Meltrin-gamma, Metalloprotease/disintegrin/cysteine-rich protein 9, Myeloma cell metalloproteinase