BBS1, Official Symbol BBS1provided by HGNC Official Full Name Bardet-Biedl syndrome 1provided by HGNC Primary source HGNC:HGNC:966 See related Ensembl:ENSG00000174483 MIM:209901; AllianceGenome:HGNC:966 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 Also known as BBS2L2 Summary Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 19.8), kidney (RPKM 18.2) and 25 other tissues See more Orthologs mouse all