Neuroblastoma breakpoint family, pseudogene (NBPF pseudogene)

Neuroblastoma breakpoint family pseudogenes, such as those in the ENSG00000274019 locus, are non-protein-coding sequences duplicated from the NBPF gene family, which is most expanded in humans and primates. While the protein-coding NBPF genes have been implicated in nervous system development, brain size evolution, and various diseases including neuroblastoma and neurodevelopmental disorders, NBPF pseudogenes themselves do not encode proteins and are not validated as drug targets. The locus exhibits high copy number variation, which may alter expression levels of associated protein-coding genes and be involved in disease pathways such as microcephaly, autism, and schizophrenia, but no specific functional or therapeutic role is known for the pseudogenes themselves[2][6][1][4][5].

Other names

NBPF pseudogeneNBPF18PNeuroblastoma breakpoint family member pseudogene