Aliases POP1 Human Mouse Ensembl ENSG00000104356 | Species Human Entrez 10940 | |
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External IDs MGI: 1914974 HomoloGene: 41000 GeneCards: POP1 | ||
Ribonucleases P/MRP protein subunit POP1 is a protein that in humans is encoded by the POP1 gene.
Contents
Function
POP1 is a protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. This protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing.
Clinical significance
POP1 is also an autoantigen in patients suffering from connective tissue diseases. Mutations in the POP1 gene result in severe anauxetic dysplasia.
Interactions
POP1 (gene) has been shown to interact with POP4.
References
POP1 (gene) Wikipedia(Text) CC BY-SA