| PSMD9 |
| LOCUS ID | 5715 | ||||||||||||||||
| GENE_SYMBOL | PSMD9 | ||||||||||||||||
| GENE NAME | proteasome (prosome, | ||||||||||||||||
| SYNONYMNS | p27,Rpn4 | ||||||||||||||||
| CHROMOSOME | 12 | ||||||||||||||||
| HOMOLOGENE ID | 2106 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| The 26S proteasome is a multicatalytic proteise complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryo |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. linkage of the PSMD9 T2D risk SNPs with T2D-nephropathy, T2D-neuropathy, retinopathy, hypercholesterolemia, and macrovascular pathology. | 22015693 |
| Retinopathy | 1. At the 12q24 locus, the Proteasome-Modulator 9 (PSMD9) single nucleotide polymorphisms (SNPs) rs74421874 [intervening sequence (IVS) 3+nt460-G>A], rs3825172 (IVS3+nt437-C>T) and rs14259 (E197G-A>G) are linked toT2D, depression, anxiety, maturity-onset-diabetes-of the young 3/MODY3, obesity, waist circumference, hypertension, hypercholesterolemia, T2D-macrovascular disease, T2D-microvascular disease, T2D-neuropathy, T2D-carpal-tunnel syndrome, T2D-nephropathy, T2D-retinopathy and non-diabetic retinopathy. | 26166263 |
| Neuropathy | 1. We report the linkage study of the PSMD9 SNPs [intervening sequence IVS3+nt460A/G, IVS3+nt437C/T and E197G] in Italian families with type 2 diabetes (T2D) neuropathy. | 21813292 |