Gene: PARL

Alternate names for this Gene: PRO2207|PSARL|PSARL1|PSENIP2|RHBDS1

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: presenilin associated rhomboid like

Type of Gene: protein-coding

rs10937153 in PARL gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs263001 in PARL gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.