CUL7 assembles an E3 ubiquitin ligase complex containing Skp1, Fbx29 (also called Fbw8) and ROC1 and promotes ubiquitination.
Pathology
germline mutations in 3-M syndrome (MIM.273750) (16142236)
- 3-M syndrome (OMIM 273750) is an autosomal recessive condition characterized by severe pre- and postnatal growth retardation.
- Impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation in humans.
References
Huber C, Dias-Santagata D, Glaser A, O’Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Megarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Identification of mutations in CUL7 in 3-M syndrome. Nat Genet. 2005 Oct;37(10):1119-24. PMID: 16142236