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This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized.
tetratricopeptide repeat domain 8
, tetratricopeptide repeat protein 8
, tetratricopeptide repeat protein 8-like
, Bardet-Biedl syndrome type 8
, TPR repeat protein 8
, bardet-Biedl syndrome 8 protein
, bardet-Biedl syndrome 8 protein homolog