Analysis of NBPF6 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1219-LGZ)

Introduction

Official Full Name: NBPF member 6
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. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implied 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 has been linked to several cancers. This gene family contains many pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.