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

Species distribution

Gene table

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