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Neuroblastoma breakpoint family member 12 is a member of the NBPF gene family, characterized by recent expansion within the primate lineage, especially humans, and by tandem repeats of the DUF1220 protein domain[3][7]. NBPF family members are primarily located in segmental duplications on chromosome 1q21.1, a chromosomal region frequently amplified in various aggressive tumors and implicated in several developmental and neurogenetic disorders. Copy number variations affecting NBPF12 and related family members have been associated with diseases such as autism, schizophrenia, neuroblastoma, and congenital anomalies. NBPF12 is not a classic receptor, enzyme, transporter, or transcription factor, but its genetic dosage and transcriptional activity contribute to important cellular and developmental processes. It is not currently a direct drug target, though the NBPF gene family plays a putative role in disease pathogenesis[1][3][4][7].
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