Primary Identifier | IPR042505 | Type | Family |
Short Name | DYNC2I1 |
description | DYNC2I1 (also known as WDR60) is part of the dynein-2 complex, which drives retrograde ciliary protein trafficking by associating with the intraflagellar transport (IFT) machinery []. It plays a major role in the dynein-2 complex to mediate retrograde ciliary protein trafficking in cilia and flagella []. Mutations in the WDR60 gene cause Jeune asphyxiating thoracic dystrophy (JATD) and short-rib polydactyly syndrome (SRPS) [, ]. |