COL15A1

The protein forms type XV collagen, which stabilizes microvessels and muscle cells in both cardiac and skeletal muscle by adhering basement membranes to underlying connective tissue. Mutations cause autosomal recessive muscle-eye-brain disease with multicentric core disease, characterized by congenital muscular dystrophy, structural eye abnormalities, and intellectual disability. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.