| SERPINB7 |
| LOCUS ID | 8710 | ||||||||||
| GENE_SYMBOL | SERPINB7 | ||||||||||
| GENE NAME | serpin peptidase inh | ||||||||||
| SYNONYMNS | PPKN, TP55, MEGSIN | ||||||||||
| CHROMOSOME | 18 | ||||||||||
| HOMOLOGENE ID | 68363 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, gashima type. Altertive splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. NP rs512099, located in intron 1 of NEDD4L, was associated under a domint model of inheritance [P value = 0.0006; Odds ratio (95% Confidence Interval) OR (95% CI) = 0.70 (0.57-0.86)]. SNP rs1720843, located in intron 2 of SERPINB7, was associated under a recessive model of inheritance [P value = 0.0017; OR (95% CI) = 0.65 (0.50-0.85)]. Collectively, these suggest that multiple genes in this region may influence diabetic nephropathy susceptibility in AAs. | 19690890 |