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RNA tissue category: Tissue enhanced (kidney, small intestine)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (kidney, small intestine)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, small intestine)
GENE INFORMATION
Gene name
PDZK1 (HGNC Symbol)
Synonyms
NHERF3, PDZD1
Description
PDZ domain containing 1 (HGNC Symbol)
Entrez 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. [provided by RefSeq, Jan 2011]