CILP
Function
Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage.
Involvement in disease
Intervertebral disc disease
IDD
A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Post-translational modifications
Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion.
Tissue Specificity
Specifically expressed in cartilage. Localizes in the intermediates layer of articular cartilage but neither in the superficial nor in the deepest regions. Specifically and highly expressed in intervertebral disk tissue. Expression increases with aging in hip articular cartilage. Overexpressed in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease (CPPD). Expression in intervertebral disk tissue from individuals with lumbar disk disease increases as disk degeneration progresses.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
UNQ602/PRO1188, CILP, Cartilage intermediate layer protein 1, CILP-1, Cartilage intermediate-layer protein