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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, mental retardation, 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, Apr 2013].
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Protein Aliases: NBPF family member NBPF8; Neuroblastoma breakpoint family member 8; neuroblastoma breakpoint family, member 8; neuroblastoma breakpoint family, member 8, pseudogene
Gene Aliases: NBPF8; NBPF8P
UniProt ID: (Human) Q3BBV2
Entrez Gene ID: (Human) 728841
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