The ACAN gene provides instructions for making the aggrecan protein. Learn about this gene and related health conditions.

Aggrecan (ACAN), also known as cartilage-specific proteoglycan core protein (CSPCP) or chondroitin sulfate proteoglycan 1, is a protein that in humans is encoded by the ACAN gene. [5]

Nov 13, 2025 · Complete information for ACAN gene (Protein Coding), Aggrecan, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human …

Feb 8, 2025 · Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan. Identification of novel ACAN mutations …

The ACAN gene was considered a strong candidate gene for SEDK because it maps to the same region and because ACAN mutations cause forms of chondrodysplasia in the mouse and chick.

Jun 15, 2025 · The ACAN gene provides the instructions for a protein essential for the body’s skeletal framework, directing a core component for the healthy development of cartilage and …

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.

Our study achieves a new understanding of the phenotypic spectrum, diagnosis, and management of individuals with ACAN variants. No clear genotype–phenotype relationship of …

Learn about the ACAN gene, its role in producing aggrecan protein for cartilage health, and its implications for conditions like arthritis and osteoporosis. Explore genetic testing and research …

Jun 25, 2024 · ACAN, short for aggrecan, is a critical proteoglycan that plays a vital role in maintaining the structural integrity of cartilage.