COL27A1 encodes the alpha-1 chain of type XXVII collagen, a fibrillar collagen that serves as a structural component of the extracellular matrix. The gene is located on chromosome 9-33 and contains 61 exons spanning approximately 156 kbp 1. COL27A1 is highly expressed in cartilage, eye, ear, lung, and colon, where it functions as a component of extracellular matrices 1. The protein plays a crucial role in cartilage calcification and the transition from cartilage to bone during skeletal development 1. Functionally, COL27A1 provides tensile strength to extracellular matrices and participates in skeletal system development. Mutations in COL27A1 cause Steel syndrome, an autosomal recessive skeletal disorder characterized by dysmorphic facial features, absent hip ossification centers, foot rotation abnormalities, short stature, and sensorineural hearing loss 2. The gene has also been implicated in other conditions including Achilles tendinopathy susceptibility 3 and poor segmental congenital scoliosis, where COL27A1 downregulation was identified as a potential biomarker 4. Additionally, COL27A1 expression correlates with glioblastoma patient survival, suggesting potential prognostic significance in cancer 5.