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BBS5

Official Full Name
Bardet-Biedl syndrome 5
Background
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.
Synonyms
BBS5; Bardet-Biedl syndrome 5; Bardet-Biedl syndrome 5 protein; DKFZp762I194; Bardet Biedl syndrome 5 protein; zgc:56578; Bardet-Biedl syndrome 5 protein homolog

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