Gene Symbol | POP1 |
Entrez Gene ID | 10940 |
Full Name | POP1 homolog, ribonuclease P/MRP subunit |
Synonyms | ANXD2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Anauxetic dysplasia 2, 617396 (3) |