Blepharophimosis, epicanthus inversus and ptosis candidate 1 (non-protein coding) (BPESC1)

BPESC1 is a long non-coding RNA (lncRNA) gene located in a chromosomal region that has been proposed as a candidate for involvement in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), mainly due to structural variants such as deletions affecting the FOXL2 region or surrounding regulatory elements. BPESC1 itself does not encode a known protein, nor is it a recognized receptor, enzyme, or therapeutic target. While it has been referenced in studies of regulatory elements near FOXL2, no direct molecular function or therapeutic relevance has been established. The gene is annotated in multiple databases as a non-coding RNA with no verified molecular activity or disease causality. There are no known drugs or biomarkers associated with this locus. Most functional studies in BPES implicate FOXL2 protein-coding gene, not BPESC1. BPESC1 is not considered a canonical therapeutic target, and its attribution as a disease-associated gene represents likely confusion with more definitively validated protein-coding genes in the same genomic region.

Other names

NCRNA00187Blepharophimosis, epicanthus inversus and ptosis, candidate 1Putative BPES syndrome breakpoint region proteinBPESC1BPES candidate 1non-protein coding RNA 187blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding)