該基因是神經母細胞瘤斷點家族（NBPF）的一員，由幾十個新近復制的基因組成，這些基因主要位于人類1號染色體的片段復制中這個基因家族在人類血統中經歷了最大的擴張，在一般靈長類動物中的擴張程度較小該基因家族成員的特征是duf1220蛋白結構域的標準重復拷貝。人類染色體區域1q21.1中的基因拷貝數變異（大多數DUF1220結構域位于該區域）與許多發育和神經遺傳疾病有關，如小頭畸形、巨頭畸形、自閉癥、精神分裂癥、認知功能障礙、先天性心臟病、神經母細胞瘤先天性腎和尿路異常。某些基因家族成員的表達改變與多種癌癥有關。這個基因家族包含許多假基因[由RefSeq提供，2013年4月]
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]