Primary Identifier | IPR037386 | Type | Family |
Short Name | CCDC40 |
description | Coiled-coil domain containing protein 40 (CCDC40) plays an evolutionary conserved role in the assembly of motile cilia and establishment of the left-right axis [, ]. CCDC40 may serve as a part of the axoneme structural scaffold. It has been shown to be required for axonemal recruitment of CCDC39 []. CCDC40 mutation is a cause of primary ciliary dyskinesia []. |