Target intelligence / Profile preview

Neuroblastoma breakpoint family member 8 (NBPF8)

Target
NBPF8
Molecular classification
Other (NBPF family protein; DUF1220 domain-containing)
01

Overview

Neuroblastoma breakpoint family member 8 (NBPF8) is a member of the NBPF gene family located on chromosome 1q21.1[1][2][4]. NBPF genes are characterized by the presence of multiple DUF1220 protein domains, which have undergone significant expansion in humans and are present as segmental duplications. While the specific function of NBPF8 is unknown, copy number variations and altered expression in the NBPF family have been associated with various developmental and neuropsychiatric disorders (including microcephaly, macrocephaly, autism, schizophrenia, and cognitive disabilities) as well as certain cancers such as neuroblastoma. NBPF8 itself is not considered a drug target, and there is no established pharmacological interaction or mechanism of action. The family is notable for containing some pseudogenes, and its evolutionary characteristics may have contributed to human brain development[1][2][5][6][8].

Other names
NBPF8NBPF8PNBPF family member NBPF8Neuroblastoma breakpoint family member 8Putative neuroblastoma breakpoint family member 8
02

Biological functions

Other (unknown; possibly neurodevelopmental)
03

Disease associations

CancerNeurodevelopmental disordersCongenital heart diseaseCongenital kidney and urinary tract anomalies

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