In brain, may be required for corpus callosum development. Ubiquitously expressed, with higher expression in lung and fetal brain. The disease is caused by variants affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed. Belongs to the UPF0456 family.