Aliases for CIRH1A Gene
External Ids for CIRH1A Gene
Previous GeneCards Identifiers for CIRH1A Gene
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq, Jul 2008]
GeneCards Summary for CIRH1A Gene
CIRH1A (Cirrhosis, Autosomal Recessive 1A (Cirhin)) is a Protein Coding gene. Diseases associated with CIRH1A include cirrhosis, north american indian childhood type and hereditary north american indian childhood cirrhosis. Among its related pathways are Ribosome biogenesis in eukaryotes.
UniProtKB/Swiss-Prot for CIRH1A Gene
May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5-GGGACTTTCC-3 found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV. Ribosome biogenesis factor involved in small subunit (SSU) pre-rRNA processing at sites A, A0, 1 and 2b.