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Neuroblastoma breakpoint family member 18, pseudogene (NBPF18P)
- Target
- NBPF18P
- Molecular classification
- Other (pseudogene)
01
Overview
Neuroblastoma breakpoint family member 18, pseudogene (NBPF18P) is a genomic sequence classified as a pseudogene within the neuroblastoma breakpoint family (NBPF), a large and complex gene family characterized by recently duplicated members primarily located on human chromosome 1. NBPF18P, like other NBPF pseudogenes, does not code for a functional protein product due to frameshift or nonsense mutations. However, the NBPF family as a whole is known for containing tandemly repeated copies of the DUF1220 domain, whose copy number correlates with neurodevelopmental phenotypes and is implicated in a variety of developmental and neurogenetic diseases. To date, no direct biological function or disease association has been established for NBPF18P, and it is not a known therapeutic target[2][3].
- Other names
- NBPF18PNeuroblastoma-breakpoint family member 18, pseudogene
02
Biological functions
Other (does not encode a functional protein; may have roles as a non-coding RNA or genomic marker, but no characterized biological function)
03
Disease associations
Other (located within a gene family involved in neurodevelopmental and neurogenetic disorders such as neuroblastoma, microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, congenital kidney and urinary tract anomalies, but no direct functional role established for NBPF18P itself)[2][3]
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