Gene Symbol | PARL |
Entrez Gene ID | 55486 |
Full Name | presenilin associated rhomboid like |
Synonyms | PRO2207,PSARL,PSARL1,PSENIP2,RHBDS1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]. |
Disorder MIM: |