Aliases for NBPF4 Gene
External Ids for NBPF4 Gene
Previous GeneCards Identifiers for NBPF4 Gene
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, 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, Mar 2013]
GeneCards Summary for NBPF4 Gene
NBPF4 (NBPF Member 4) is a Protein Coding gene. Diseases associated with NBPF4 include Autosomal Recessive Nonsyndromic Deafness 32 and Hydrolethalus Syndrome 1. An important paralog of this gene is NBPF6.