BBS5, Official Symbol BBS5provided by HGNC Official Full Name Bardet-Biedl syndrome 5provided by HGNC Primary source HGNC:HGNC:970 See related Ensembl:ENSG00000163093 MIM:603650; AllianceGenome:HGNC:970 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary 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. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 7.2), thyroid (RPKM 4.0) and 22 other tissues See more Orthologs mouse all