The epidermal growth factor (EGF) repeat-containing proteins constitute an expanding family of proteins that are involved in several cellular activities, such as blood coagulation, fibrinolysis, cell adhesion and neural and vertebrate development. CRELD2 (cysteine-rich with EGF-like domains 2) is a 353 amino acid protein that is ubiquitously expressed and contains two FU domains and two EGF-like domains. Localized to the endoplasmic reticulum and secreted into the cell, CRELD2 interacts with AChRå4, possibly regulating its transport. Human CRELD2 shares 69% amino acid identity with its mouse counterpart, suggesting a conserved role between species. Multiple isoforms of CRELD2 exist due to alternative splicing events. The gene encoding CRELD2 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.