Aliases for CILP Gene
External Ids for CILP Gene
Previous GeneCards Identifiers for CILP Gene
Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]
GeneCards Summary for CILP Gene
CILP (Cartilage Intermediate Layer Protein, Nucleotide Pyrophosphohydrolase) is a Protein Coding gene. Diseases associated with CILP include intervertebral disc disease and familial calcium pyrophosphate deposition. GO annotations related to this gene include alkaline phosphatase activity and nucleotide diphosphatase activity. An important paralog of this gene is CILP2.
UniProtKB/Swiss-Prot for CILP Gene
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.