{"symbol":"CIRH1A","synonyms":["CIRHIN","NAIC","UTP4","TEX292"],"name":"cirrhosis, autosomal recessive 1A (cirhin)","description":"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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","ncbiEntrezGeneId":84916,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/84916","proteins":[{"symbol":"CIR1A_HUMAN","href":"/api/1.0/protein/CIR1A_HUMAN"}],"hgncRootFamilies":[{"name":"WD repeat domain containing (WDR)","href":"/api/1.0/gene_family/WD+repeat+domain+containing+%28WDR%29"}]}