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, mental retardation, 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]

[中文简述(自动翻译):]  此基因是神经母细胞瘤的断点家族（NBPF）由数十个主要位于人染色体1该基因家族在片段重复最近重复基因中的一员经历了人类谱系内其最大的膨胀和扩大，在较小程度上，在一般灵长类动物中。此基因家族成员由DUF1220蛋白质结构域的串联重复拷贝特征。在人类染色体区域1q21.1，大多数DUF1220结构域位于基因拷贝数量的变化，已牵涉许多发育和神经源性疾病如小头畸形，大头畸形，孤独症，精神分裂症，精神发育迟缓，先天性心脏疾病，神经母细胞瘤的，和先天肾气和尿道异常。一些基因家族成员的改变的表达与几种类型的癌症相关联。该基因家族包含了许多假。 [由RefSeq的，2013年4月提供]

NBPF1基因在不同组织中的表达：    [UniProt]

      尚未收录相关数据