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]
^ a b c GRCh38: Ensembl release 89: ENSG00000163093 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063145 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS (Mar 1999). "Genetic heterogeneity of Bardet–Biedl syndrome in a distinct Canadian population: evidence for a fifth locus". Genomics . 55 (1): 2–9. doi :10.1006/geno.1998.5626 . PMID 9888993 . ^ Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS (Apr 1999). "A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31" . Am J Hum Genet . 64 (3): 900–4. doi :10.1086/302301 . PMC 1377810 PMID 10053027 . ^ a b "Entrez Gene: BBS5 Bardet–Biedl syndrome 5" . Archived from the original on 2010-03-07. Retrieved 2017-08-30 .
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