Collagen type XVII alpha 1 chain mRNA (COL17A1 mRNA)

Collagen type XVII alpha 1 chain (COL17A1) mRNA is the transcript of the COL17A1 gene, which encodes a specialized transmembrane collagen essential for maintaining the structural integrity of the dermo-epidermal junction [1]. As a key component of hemidesmosomes, the resulting protein, also known as BP180, anchors basal keratinocytes to the underlying basement membrane [2]. Therapeutic targeting of COL17A1 mRNA is primarily focused on treating Junctional Epidermolysis Bullosa (JEB), a genetic disorder where mutations lead to protein deficiency and severe skin blistering [3]. Current pharmacological strategies include the use of antisense oligonucleotides (ASOs) designed for exon skipping to bypass premature stop codons and restore the reading frame [4]. Additionally, gene replacement therapies are being developed to deliver functional COL17A1 genetic material to restore protein expression in affected tissues [5]. Beyond genetic diseases, COL17A1 mRNA expression is a critical factor in skin aging and the maintenance of the epidermal stem cell niche, making it a target of interest for regenerative dermatology [6]. (Sources: [1] UniProt Q9UMD9; [2] Watanabe et al., 2017, eLife; [3] Has et al., 2020, Nat Rev Dis Primers; [4] Bornert et al., 2016, J Invest Dermatol; [5] NIH/NCBI Gene ID 1308; [6] Liu et al., 2019, Nature).

Other names

BP180 mRNABPAG2 mRNA180 kDa bullous pemphigoid antigen 2 mRNACOL17A1 transcript

Exon skipping to restore the reading frame or bypass premature termination codons; Gene replacement to provide functional transcripts for protein translation; RNA interference to reduce mutant transcript levels in dominant-negative cases.