BBS5
Bardet-Biedl syndrome 5
Synonyms:
Species:
Human BBS5 (129880), Mouse Bbs5 (72569), Rat Bbs5 (362142), Zebrafish bbs5 (393269), naked mole-rat Bbs5 (101718158), domestic cat BBS5 (101087595), chicken BBS5 (424165), cow BBS5 (528191), dog BBS5 (478783), sheep BBS5 (101120552)
UniProtKB ID:
Gene ID:
- Human(129880) 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]
- Mouse(72569) Bardet-Biedl syndrome 5 (human)
- Rat(362142) Bardet-Biedl syndrome 5
- Zebrafish(393269) Bardet-Biedl syndrome 5
- naked mole-rat(101718158) Bardet-Biedl syndrome 5
- domestic cat(101087595) Bardet-Biedl syndrome 5
- chicken(424165) Bardet-Biedl syndrome 5
- cow(528191) Bardet-Biedl syndrome 5
- dog(478783) Bardet-Biedl syndrome 5
- sheep(101120552) Bardet-Biedl syndrome 5
- domestic guinea pig(100713052) Bardet-Biedl syndrome 5
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