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Protein-coding gene in the species Homo sapiens
Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene .[ 5] [ 6] [ 7]
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 required for the formation of cilia . Alternate transcriptional splice variants have been observed but have not been fully characterized.[ 7]
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