Gene: PDZK1

Alternate names for this Gene: CAP70|CLAMP|NHERF-3|NHERF3|PDZD1

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.1

Description of this Gene: PDZ domain containing 1

Type of Gene: protein-coding

rs12129861 in PDZK1 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs1797052 in PDZK1 gene and Contrast Sensitivity PMID 24152035 2014 Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.

rs12129861 in PDZK1 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs12129861 in PDZK1 gene and Uric acid measurement (procedure) PMID 19503597 2009 Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.