DROSHA Chromosome 5

Drosha ribonuclease III

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]

Gene Info

Gene Group

"Endoribonucleases|Microprocessor complex"

Locus Type

gene with protein product

Location

5p13.3

Ensembl

ENSG00000113360

Associated Conditions (1)

Hereditary breast ovarian cancer syndrome

Key Variants

RS2150052710

Pathogenic

Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2150052710	Health Risk	Pathogenic	Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome