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CIRH1A
''UTP4'' is a gene that encodes the protein Cirhin, the gene is also known as ''CIRH1A'' and ''NAIC''. This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43. Biallelic mutations to ''UTP4'' have been associated with North American Indian childhood cirrhosis, a form of inherited cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec. References Further reading * * * * * External links * {{gene-16-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WD40 Repeat
The WD40 repeat (also known as the WD or beta-transducin repeat) is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide. Tandem copies of these repeats typically fold together to form a type of circular solenoid protein domain called the WD40 domain. Structure WD40 domain-containing proteins have 4 to 16 repeating units, all of which are thought to form a circularised beta-propeller structure (see figure to the right). The WD40 domain is composed of several repeats, a variable region of around 20 residues at the beginning followed by a more common repeated set of residues. These repeats typically form a four stranded anti-parallel beta sheet or blade. These blades come together to form a propeller with the most common being a 7 bladed beta propeller. The blades interlock so that the last beta strand of one repeat forms with the first three of the next repeat to form the 3D blade structure. Function WD40-repe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
UTP15
U3 small nucleolar RNA-associated protein 15 homolog is a protein that in humans is encoded by the ''UTP15'' gene. See also * Fibrillarin * Small nucleolar RNA U3 * RCL1 * RRP9 * UTP6 * UTP11L * UTP14A References Further reading * * * * * * * * {{gene-5-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
North American Indian Childhood Cirrhosis
North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada. The disease is due to an autosomal recessive abnormality of the ''UTP4'' gene, which codes for cirhin. NAIC is a ribosomopathy. An R565W mutation of ''UTP4'' leads to partial impairment of cirhin interaction with NOL11. Initial transient neonatal jaundice advances over time to biliary cirrhosis Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver. It results from a slow, progressive destruction of the small bile ducts of the liver, causing bile and other toxins to build ... with severe liver fibrosis. Eventually, liver failure occurs, and requires liver transplantation. See also * Indian childhood cirrhosis References North American Indian childhood cirrhosison Genetics Home Reference {{reflist, refs= ←KEEP: This reference list is organized alphanumerically by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |