Regulator of chromosome condensation 1-like protein (RCC1L)

The **regulator of chromosome condensation 1-like protein (RCC1L)**, also known as WBSCR16, is a mitochondrial protein distinguished by the presence of RCC1-like repeats that assemble into a seven-bladed β-propeller fold[3][5][7]. Unlike canonical RCC1 superfamily members involved in nuclear functions, RCC1L operates in mitochondria, localizing to this organelle and playing an essential role in mitochondrial ribosome assembly and intra-mitochondrial protein synthesis[2][7][9][10]. At least three alternatively spliced isoforms (RCC1L V1, V2, V3) have been identified, distributing differentially with mitoribosomal subunits and GTPases necessary for mitochondrial translation fidelity and efficiency[2][7][9]. Loss or disruption of RCC1L impairs mitoribosome biogenesis, reduces mitochondrial 16S rRNA levels, and compromises oxidative phosphorylation capacity. RCC1L is located in a chromosomal region frequently deleted in Williams-Beuren syndrome, implicating it in the pathology of this multisystem neurodevelopmental disorder; however, there is currently no established role as a direct pharmacological target, nor are there known drugs, biomarkers, or safety issues specifically linked to RCC1L[1][2][7][9][10].

Other names

WBSCR16Williams-Beuren syndrome chromosomal region 16 proteinRCC1-like G exchanging factor-like proteinWilliams-Beuren syndrome chromosome region 16