Primary Identifier | IPR040379 | Type | Family |
Short Name | WDR19/dyf-2 |
description | Proteins in this entry contain WD40 repeats, and include WD repeat-containing proteins 19 (WDR19), from mammals, and dyf-2 from nematodes. Both WDR19 and dyf-2 are components of the IFT complex A (IFT-A), which is required for retrograde ciliary transport [, ]. Mutations in the WDR19 gene are associated with numerous diseases, including cranioectodermal dysplasia 4, short-rib thoracic dysplasia 5 with or without polydactyly, nephronophthisis 13 [], and Senior-Loken syndrome 8 []. |