InterPro domain: IPR029329
General Information
- Identifier IPR029329
- Description Domain of unknown function DUF4472
- Number of genes 1
- Gene duplication stats Loading...
Abstract
This domain is found in proteins from Metazoa. Some proteins also carry kinesin-motor domains at their N terminus ( IPR001752 ).
Proteins containing this domain include the coiled-coil domain-containing protein 78 (CCDC78), which is a component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles [ 1 ]. CCDC78 does not have the kinesin-motor domain. Mutations in CCDC78 genes cause Myopathy, centronuclear, 4 (CNM4), which is a congenital muscle disorder characterised by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles [ 2 ].
1. Deuterosome-mediated centriole biogenesis. Dev. Cell 27, 103-12
2. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am. J. Hum. Genet. 91, 365-71