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Neuroblastoma breakpoint family member 6 (NBPF6)
- Target
- NBPF6
- Molecular classification
- Other (protein of unknown function, member of Neuroblastoma breakpoint family)
01
Overview
Neuroblastoma breakpoint family member 6 (NBPF6) is a protein-coding gene that belongs to the neuroblastoma breakpoint family, characterized by tandemly repeated DUF1220 protein domains. This gene family has undergone significant expansion in humans, mainly on chromosome 1, and is considered structurally complex with extensive segmental duplications. While the precise function of NBPF6 is not well understood, variations in this gene and related family members have been implicated in several developmental, neurogenetic, and neuropsychiatric diseases, such as neuroblastoma, autism, micro/macrocephaly, schizophrenia, and various congenital anomalies[1][2][4][5][6]. No direct drug interactions, mechanisms of action, or clinical biomarkers are currently associated with NBPF6, and it is not considered a conventional therapeutic target such as a receptor, enzyme, or transporter.
- Other names
- NBPF member 6NBPF6GC01U901190multiple prior GeneCards aliases
02
Biological functions
Other (unknown; possible roles in brain development and neurogenetic processes inferred from gene family context)
03
Disease associations
NeuroblastomaAutismMicrocephalyMacrocephalySchizophreniaCognitive disabilityCongenital heart diseaseCongenital kidney and urinary tract anomaliesCancer (various)
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