PDZK1
PDZ domain containing 1
Summary
This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12129861 | 1:145,725,689 | G/A | upstream gene variant | — |
| rs1797052 | 1:145,727,683 | C/T | regulatory region variant | — |
| rs72704275 | 1:145,736,652 | G/A | intron variant | — |
| rs191362962 | 1:145,747,065 | C/T | stop gained | — |
| rs387907448 | 1:145,747,105 | G/A | — | uncertain significance |
| rs781802502 | 1:145,747,134 | G/A | — | uncertain significance |
| rs2525532316 | 1:145,747,183 | C/T | — | uncertain significance |
| rs942177820 | 1:145,747,200 | G/T | — | uncertain significance |
| rs2525531673 | 1:145,747,241 | A/C | — | uncertain significance |
| rs2525521677 | 1:145,748,425 | G/A | — | uncertain significance |
| rs782449747 | 1:145,748,528 | G/A | — | uncertain significance |
| rs782407042 | 1:145,748,542 | G/A | — | uncertain significance |
| rs138296787 | 1:145,752,479 | G/A | — | benign |
| rs2525493954 | 1:145,752,534 | G/A | — | likely benign |
| rs587607271 | 1:145,752,554 | T/C | — | uncertain significance |
| rs1553699711 | 1:145,756,492 | C/T | — | uncertain significance |
| rs587618982 | 1:145,758,034 | C/T | — | — |
| rs782426823 | 1:145,761,181 | C/T | — | uncertain significance |
| rs782667831 | 1:145,761,329 | T/C | — | uncertain significance |
| rs1174273386 | 1:145,761,401 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.