Neuroblastoma breakpoint family member 9 (NBPF9)

Neuroblastoma breakpoint family member 9 (NBPF9) is a protein-coding gene belonging to the neuroblastoma breakpoint family (NBPF), which is characterized by tandemly repeated DUF1220 domains and has undergone significant expansion in the human genome[1][3][5]. It is mainly located on chromosome 1q21.1, a region with considerable copy number variation. NBPF9 and related genes have been associated with a variety of neurodevelopmental and developmental disorders, including microcephaly, macrocephaly, autism, cognitive disabilities, congenital heart defects, neuroblastoma, and congenital abnormalities of the kidney and urinary tract[1][3][5]. Altered expression or copy number variations of NBPF family members—including NBPF9—are also linked to cancer and other disorders. Some data suggest that NBPF9 may play a regulatory role during pituitary development and neurodevelopment, though its precise biological role remains uncertain[5]. NBPF9 is not a canonical therapeutic target such as a receptor, enzyme, transporter, or ion channel, and there are currently no known drugs targeting this protein directly.

Other names

AE01NBPF9neuroblastoma breakpoint family member 9