Synthetic peptide within Human Cirhin aa 237-286 (internal sequence). The exact sequence is proprietary.Sequence: ADVQSIAVADQEDSFVVGTAEGTVFHFQLVPVTSNSSEKQWVRTKPFQHH Database link: Q969X6-2
Defects in Cirhin are the cause of North American Indian childhood cirrhosis. 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.
Pathway
Ribosome biogenesis in eukaryotes;
Custom Antibody Labeling
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Citations
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Betard, C; Rasquin-Weber, A; et al. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 - and identification of a shared haplotype. AMERICAN JOURNAL OF HUMAN GENETICS 67:222-228(2000).
Yu, B; Mitchell, GA; et al. Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. EXPERIMENTAL CELL RESEARCH 311:218-228(2005).
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