Protein Domain : Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3 IPR030804

Type  Family
Description  Bardet-Biedl syndrome 5 protein (BBS5) is part of the BBSome complex that may function as a coat complex required for sorting of specific membrane proteins to the primary cilia [ ]. Mutations in the BBS5 gene cause Bardet-Biedl syndrome 5, which is a syndrome characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [, ]. Also included in this family is fem-3, required for male development in Caenorhabditis elegans. Together with fem-2, fem-3 associates with the CBC(fem-1) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of tra-1, a transcription factor that is the terminal effector of the sex-determination pathway [ ].
Short Name  BBS5/fem-3

1 Child Features

0 Gene Families

0 Genes

0 Ontology Annotations

0 Parent Features

0 Publications

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