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Also known as: AE2
The gene is a member of the neuroblastoma breakpoint family (NBPF), which consists of dozens of recently duplicated genes, mainly located in segments on human chromosome 1. This gene family has undergone its greatest expansion in the human lineage and, to a lesser extent, in primates. Members of this gene family are characterized by tandem duplicate copies of the DUF1220 protein domain. Most of the DUF1220 domains are located in the region of human chromosome 1q21.1, where DUF1220 copy number variations are associated with many developmental and neurogenetic disorders, such as microcephaly, macrocephaly, autism, schizophrenia, cognitive impairment, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract abnormalities. Altered expression of some gene family members has been linked to several cancers. This gene family contains many pseudogenes.