Cirhin mRNA (CIRH1A mRNA)

Cirhin mRNA is the transcript of the CIRH1A gene (also known as UTP4), which encodes the Cirhin protein, a critical component of the small subunit (SSU) processome [UniProt: P58557]. This complex is essential for the endonucleolytic cleavage and processing of pre-ribosomal RNA, specifically the maturation of 18S rRNA required for the assembly of the 40S ribosomal subunit [PubMed: 15805465]. Mutations in the CIRH1A mRNA, most notably the c.1693C>T (p.Arg565Trp) missense mutation, are the primary cause of North American Indian Childhood Cirrhosis (NAIC), a severe autosomal recessive intrahepatic cholestasis found in the Ojibway-Cree population [PubMed: 12145751]. While there are currently no approved pharmacological agents targeting this molecule, CIRH1A mRNA is a candidate for potential gene therapy or RNA-based interventions aimed at correcting the underlying genetic defect [OMIM: 607456]. Because Cirhin is vital for global protein synthesis machinery, therapeutic strategies must be highly specific to avoid broad cytotoxic effects resulting from ribosome deficiency [PubMed: 21135508].

Other names

UTP4 mRNACirrhosis, autosomal recessive 1A mRNANAIC mRNATEX292 mRNA