Neuroblastoma breakpoint family member 20 (NBPF20)

Neuroblastoma breakpoint family member 20 (NBPF20) is a protein-coding gene located on human chromosome 1q21.1 and part of the NBPF gene family, which is notable for primate-lineage-specific expansions and high copy number variation[1][3][6]. NBPF genes are characterized by multiple tandem DUF1220 protein domains, and copy number variations in this region are linked to various neurodevelopmental disorders and certain cancers, including neuroblastoma[3][4][6]. While altered expression and copy number have pathogenic significance, especially in neurological development and tumorigenesis, the precise molecular functions of NBPF20 remain poorly understood and it is not classified as a canonical therapeutic target such as receptor, enzyme, or transcription factor[3][6][7].\n\nNote: There is no evidence NBPF20 is a direct drug target, established biomarker, or safety concern. Its primary relevance is as a member of a gene family undergoing recent evolutionary expansion, implicated in copy number variation disorders and, indirectly, in cancer and developmental diseases.

Other names

NBPF20Neuroblastoma breakpoint family member 20NBPF family member NBPF20