PARL Chromosome 3
Presenilin associated rhomboid like
Upload your DNA to see your personal genotypes for variants in PARL.
What This Gene Does
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]
Gene Info
Gene Group
Rhomboid family
Locus Type
gene with protein product
Location
3q27.1
Ensembl
ENSG00000175193
Associated Conditions (3)
Leprosy
susceptibility to
1
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12631031 | Health Risk | Uncertain risk allele | Leprosy, susceptibility to, 1 |