COL24A1 encodes collagen type XXIV alpha 1 chain, a fibril-forming collagen with unique structural features of invertebrate collagens 1. The gene is predominantly expressed in bone tissue and may participate in regulating type I collagen fibrillogenesis during fetal development, particularly in osteoblasts where its transcription is controlled by CREB-AP1 protein complexes 1. COL24A1 plays critical roles in extracellular matrix organization and is involved in structural integrity of ligaments and skeletal tissues, with SNPs significantly associated with cranial cruciate ligament rupture susceptibility in dogs 2. Functionally, COL24A1 contributes to bone formation and is enriched in shared adaptive pathways among tropical Asian indigenous populations 3. Disease relevance is emerging across multiple conditions: a homozygous 6.3 kb deletion in COL24A1 was identified in autosomal recessive Parkinson's disease families 4, and maternal COL24A1 variants show significant genome-wide interaction with pre-pregnancy overweight/obesity on preterm birth risk, with rs11161721 altering COL24A1 expression in adipose tissue 5. Additionally, a CLCA2 intronic variant (rs55807512) acting as an expression quantitative trait locus for COL24A1 was associated with hallux valgus in the largest genome-wide association study of this foot deformity 6. COL24A1 is also upregulated in uterine fibroids, suggesting involvement in pathological extracellular matrix deposition 7.