NBPF3 - NBPF member 3 Gene

中文名称：NBPF 成员 3

种属: Homo sapiens

同用名: AE2

关于 NBPF3

功能概要

该基因是神经母细胞瘤断点家族 (NBPF) 的成员，该家族由数十个最近复制的基因组成，这些基因主要位于人类 1 号染色体的节段性重复中。该基因家族在人类谱系中经历了最大的扩展，并且已经扩展到较小的范围，在一般灵长类动物中。该基因家族成员的特征是 DUF1220 蛋白结构域的串联重复拷贝。大多数 DUF1220 结构域所在的人类染色体区域 1q21.1 中的 DUF1220 拷贝数变异与许多发育和神经遗传疾病有关，例如小头畸形、巨头畸形、自闭症、精神分裂症、认知障碍、先天性心脏病、神经母细胞瘤和先天性肾脏和泌尿道异常。一些基因家族成员的表达改变与几种类型的癌症有关。这个基因家族包含许多假基因。[RefSeq 提供，2013 年 2 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. DUF1220 copy number variations in 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, Feb 2013]