''UTP4'' is a gene that encodes the protein Cirhin, the gene is also known as ''CIRH1A'' and ''NAIC''.
This protein contains a
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 togethe ...
and is localized to the nucleolus where it colocates with
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
U3 small nucleolar RNA-associated prote ...
and
WDR43. Biallelic mutations to ''UTP4'' have been associated with
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.
...
, a form of inherited
cirrhosis
Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, and end-stage liver disease, is the impaired liver function caused by the formation of scar tissue known as fibrosis due to damage caused by liver disease. Damage causes tissue repai ...
of the liver occurring in American Indian children from the Abitibi region of northern Quebec.
References
Further reading
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External links
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