Cirrhosis, Autosomal Recessive 1A (CIRH1A)
CIRHIN; NAIC; TEX292
Cirhin has been associated with Indian childhood cirrhosis, a form of cirrhosis of the liver occurring in American Indian children.deduced 362-amino acid protein contains a WD domain/G-beta repeat, suggesting that it functions in cell signaling. RT-PCR followed by ELISA detected moderate to high expression in all tissues and brain regions examined, with highest expression in adult and fetal liver.CIRH1A gene has 17 exons and spans 36.3 kb of genomic sequence.
It typically presents with transient neonatal jaundice in a child who is otherwise healthy and progresses to biliary cirrhosis and portal hypertension. Liver transplantation has been the only effective therapy for patients with advanced disease.
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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Organism species: Rattus norvegicus (Rat)
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