1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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10PubMed Papers
6Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Swiss-Prot Reviewed
cytoplasmkeratoconusneoplasmendometrial cancerneuronal intranuclear inclusion disease
Based on limited published evidence, NBPF19 function remains largely undefined in standard databases. However, noncoding CGG repeat expansions in NBPF19 (also designated NOTCH2NLC) are causative mutations for neuronal intranuclear inclusion disease (NIID) 1. The gene's involvement in NIID pathogenesis appears linked to aberrant repeat expansion rather than conventional protein function. NBPF19 belongs to the NBPF family of genes, though specific biological roles remain undetermined.
1
Noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) cause neuronal intranuclear inclusion disease (NIID)
PMID: 31332380β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
endometrial cancerOpen Targets
neuronal intranuclear inclusion diseaseOpen Targets
No pathogenic variants reported on ClinVar for this gene.