Analysis of NBPF10 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0386-LGZ)

Introduction

Official Full Name: NBPF member 10
Also known as: AB6; AG1; NBPF9
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. 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 is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing results in multiple transcript variants.