DESI2

The protein functions as a deubiquitinase that removes ubiquitin chains from target proteins and exhibits palmitoyl protein thioesterase activity that removes palmitoyl groups from proteins. Mutations cause autosomal recessive neurodegeneration with brain iron accumulation, typically presenting in childhood with progressive movement disorders and cognitive decline. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.