PhenomeGene — Human Disease Gene Website SeriesLRPPRC

Molecular characteristics

LRPPRC is a high-molecular-weight protein (approx. 158 kDa) containing multiple leucine-rich pentatricopeptide repeat (PPR) motifs that facilitate RNA-binding and interaction with other proteins and nucleic acids. Its N-terminus includes leucine-rich nuclear transport signals and ENTH domains involved in endocytosis, while the C-terminus features an RNA-binding domain and a SEC1 domain for vesicular transport. LRPPRC plays a crucial role in regulating mitochondrial gene expression by facilitating mRNA maturation, export, and translation, and it also influences nuclear gene expression and cytoskeletal organization.