CILP Chromosome 15

Cartilage intermediate layer protein
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Immunoglobulin like domain containing
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000138615
Associated Conditions (3)
Lumbar disc disease
susceptibility to
CILP-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2073711 Health Risk Benign; risk factor Lumbar disc disease, susceptibility to, CILP-related disorder
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