RMRP Gene Summary [Human]
This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]
Details
| Type | Long Non-Coding RNA |
| Official Symbol | RMRP |
| Official Name | RNA component of mitochondrial RNA processing endoribonuclease [Source:HGNC Symbol;Acc:HGNC:10031] |
| Ensembl ID | ENSG00000269900 |
| Bio databases IDs | |
| Aliases | RNA component of mitochondrial RNA processing endoribonuclease |
| Synonyms | 1110032O22Rik, AL732506.1, CHH, NME1, RMRPR, RNA component of mitochondrial RNAase P, RNA component of mitochondrial RNA processing endoribonuclease, RRP2 |
| Species | Human, Homo sapiens |
| Orthologies |
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- colorectal cancer
- cartilage-hair hypoplasia
- anauxetic dysplasia
- anauxetic dysplasia type 1
- lung adenocarcinoma
- lung adenocarcinoma formation
- autosomal dominant polycystic kidney disease
- metaphyseal dysplasia without hypotrichosis
- multiple sclerosis
role in cell
- binding in
- expression in
- migration
- accumulation in
- phosphorylation in
- proliferation
- apoptosis
- growth
- colony formation
- invasion by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm