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Official Full Name: PDZ domain containing 1
Also known as: CAP70; CLAMP; PDZD1; NHERF3; NHERF-3
This gene encodes a scaffold protein that contains a PDZ domain. Molecules containing PDZ domains bind and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a key role in cholesterol metabolism by regulating HDL receptors (class B type 1 scavenger receptors). The single nucleotide polymorphism of this gene may be related to metabolic syndrome, and the overexpression of this gene may play a role in the drug resistance of multiple myeloma. The pseudogene of this gene is located on the long arm of chromosome 1. Alternative splicing transcript variants encoding multiple isoforms have been observed for this gene.