basic FUNCTION
| putatively involved in protein processing in limb, cardiac and reproductive system development |
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required for the localization of G protein-coupled receptors to primary cilia on central neurons |
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involved in planar cell polarity |
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involved playing a role in retrograde intracellular trafficking of membrane-bound vesicles and organelles |
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may play important roles in ciliated epithelial tissues, which is consistent with the probable functions of BBS proteins in basal bodies (modified centrioles) and cilia |
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mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease (Seo 2009) |
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play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels |
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MKKS, BBS10, BBS12 play an important role in the initial steps of assembly of the BBSome, which is a multiprotein complex essential for mediating the ciliary trafficking activity |