Full name: presenilin associated rhomboid like

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: PRO2207; PSARL; PSARL1; PSENIP2; RHBDS1

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]

Expression: Ubiquitous expression in fat (RPKM 16.5), colon (RPKM 14.6) and 25 other tissues

Gene size: 58392bp

Exon count: 13