The deup1 gene encodes a deuterosome assembly protein that forms supramolecular scaffolds required for the amplification of centrioles in multiciliated cells. It localizes to deuterosomes and is involv...[+]

The deup1 gene encodes a deuterosome assembly protein that forms supramolecular scaffolds required for the amplification of centrioles in multiciliated cells. It localizes to deuterosomes and is involved in the production of multiple motile cilia. The protein functions as a structural component that facilitates the organized generation of centriole progenitors during multiciliogenesis. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD