CORO1A

This gene encodes coronin-1A, a cytoskeletal protein that regulates cell motility through plasma membrane invagination and protrusion formation, and prevents phagosome-lysosome fusion in mycobacteria-infected cells. Mutations cause autosomal recessive immunodeficiency 8, a severe combined immunodeficiency typically presenting in infancy. The gene is highly constrained against loss-of-function variation (pLI 0.97, LOEUF 0.32), indicating that functional copies are essential for normal development.