ADP Ribosylation Factor Like Protein 13B (ARL13B)

In the process of positional cloning of the gene responsible for Bardet-Biedl syndrome type 3 (BBS3), which has been mapped to 3p12-q13 by linkage analysis, Fan et al. (2004) determined that the C. elegans ARL2L1 ortholog is expressed in ciliated cells. They found no mutations in ARL2L1 in families with BBS3.

In mouse tissues, Arl13b protein was expressed in cilia of all organs examined, including developing cerebellum, distal renal collecting ducts, and the retinal photoreceptor cilia layer connecting the inner and outer segments. About 40% of cilia-like structures in cerebellum showed ARL13B expression at embryonic day 16, compared with 1% of cells by postnatal day 21.