PARL
LOCUS ID55486
GENE_SYMBOLPARL
GENE NAMEpresenilin associated, rhomboid-like
SYNONYMNSPSARL, PSARL1, RHBDS1, PRO2207, PSENIP2
CHROMOSOME3
HOMOLOGENE ID10239
microRNAsNANA
GENE SUMMARY
This gene encodes a mitochondrial integral membrane protein. Following proteolytic processing of this protein, a small peptide (P-beta) is formed and translocated to the nucleus. This gene may be involved in signal transduction via regulated intramembrane proteolysis of membrane-tethered precursor proteins. Variation in this gene has been associated with increased risk for type 2 diabetes. Altertive splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. The Leu262Val polymorphism of PARL is not associated with markers of insulin resistance. However, in subjects with T2DM, genetic variation at this locus may indicate earlier onset of T2DM and increased susceptibility to nephropathy and cardiovascular complications.19185381
Cardiovascular1. The Leu262Val polymorphism of PARL is not associated with markers of insulin resistance. However, in subjects with T2DM, genetic variation at this locus may indicate earlier onset of T2DM and increased susceptibility to nephropathy and cardiovascular complications.19185381