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Neuroblastoma breakpoint family member 7, pseudogene (NBPF7P)
- Target
- NBPF7P
- Molecular classification
- Other, Pseudogene, Member of the neuroblastoma breakpoint family (NBPF)
01
Overview
NBPF7P (Neuroblastoma breakpoint family member 7, pseudogene) is part of the NBPF gene family, which consists of many recently duplicated genes and pseudogenes, mostly clustered on human chromosome 1. The NBPF family is characterized by the presence of multiple DUF1220 protein domains and is subject to extensive copy number variation, which is associated with susceptibility to a range of neurodevelopmental and congenital disorders, as well as cancer. NBPF7P itself is classified as a pseudogene and does not encode a functional protein. It therefore lacks a direct biological or pharmacological role, and is not considered a therapeutic target.
- Other names
- NBPF7Putative NBPF family member NBPF7NBPF7PPutative neuroblastoma breakpoint family member 7
02
Biological functions
None established for this specific pseudogenePseudogenes do not encode functional proteins or have direct biological function assignedThe NBPF gene family as a whole is implicated in brain development and disease susceptibility through gene copy number variation but not specifically attributed to NBPF7P
03
Disease associations
No specific disease role is established for NBPF7PCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in NeuroblastomaCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in MicrocephalyCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in MacrocephalyCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in AutismCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in SchizophreniaCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in Cognitive disabilityCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in Congenital heart diseaseCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in Congenital kidney and urinary tract anomaliesCopy number variations in NBPF family regions (including potential overlap with NBPF7P) are implicated in Cancer (various, via altered NBPF gene expression)These roles are ascribed to the NBPF region/family, not directly to the NBPF7P pseudogene
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