| PARL |
| LOCUS ID | 55486 | |||||||||||||
| GENE_SYMBOL | PARL | |||||||||||||
| GENE NAME | presenilin associate | |||||||||||||
| SYNONYMNS | PSARL, PSARL1, RHBDS1, PRO2207, PSENIP2 | |||||||||||||
| CHROMOSOME | 3 | |||||||||||||
| HOMOLOGENE ID | 10239 |
| microRNAs | NA | NA |
| 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 |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. 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 |
| Cardiovascular | 1. 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 |