CIRH1A Antibody (N-Term) Blocking Peptide

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]

CIRH1A: 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. Defects in CIRH1A are the cause of North American Indian childhood cirrhosis (NAIC). NAIC is a severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function; Nucleolus

Chromosomal Location of Human Ortholog: 16q22.1

Cellular Component: fibrillar center; nucleolus; nucleoplasm

Molecular Function: protein binding

Biological Process: maturation of SSU-rRNA; regulation of transcription, DNA-dependent; rRNA processing

Disease: North American Indian Childhood Cirrhosis