Analysis of NBPF12 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0392-LGZ)

Introduction

Official Full Name: NBPF member 12
Also known as: COAS1; KIAA1245
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. Most of the DUF1220 domains are located in the human chromosome 1q21.1 region, and gene copy number variations in this region are associated with many developmental and neurogenetic diseases, such as microcephaly, macrocephaly, autism, schizophrenia, cognitive impairment, congenital heart disease, neuroblastoma, and congenital anomalies of the kidney and urinary tract. Altered expression of some gene family members has been linked to several cancers. This gene family contains many pseudogenes.