CUL7

CUL7
Estruturas disponíveis
PDBPesquisa Human UniProt: PDBe RCSB
Identificadores
Nomes alternativosCUL7
IDs externosOMIM: 609577 HomoloGene: 56683 GeneCards: CUL7
Doenças Geneticamente Relacionadas
3-M syndrome[1]
Wikidata
Ver/Editar Humano

Cullin-7 é uma proteína de ligase RING-E3 que em humanos é codificada pelo gene CUL7.[3][4][5]

Significado clínico

Ela está associada à síndrome 3-M.[6][7][8]

Interações

A CUL7 demonstrou interagir com a RBX1.[3]

Referências

  1. «Doenças geneticamente associadas a CUL7 ver/editar referências no wikidata» 
  2. «Human PubMed Reference:» 
  3. a b Dias DC, Dolios G, Wang R, Pan ZQ (dezembro de 2002). «CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex». Proc Natl Acad Sci U S A. 99 (26): 16601–6. PMC 139190Acessível livremente. PMID 12481031. doi:10.1073/pnas.252646399 
  4. Arai T, Kasper JS, Skaar JR, Ali SH, Takahashi C, DeCaprio JA (agosto de 2003). «Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis». Proc Natl Acad Sci U S A. 100 (17): 9855–60. PMC 187864Acessível livremente. PMID 12904573. doi:10.1073/pnas.1733908100 
  5. «Entrez Gene: CUL7 cullin 7» 
  6. Erickson, Robert P; Wynshaw-Boris, Anthony Joseph (2016). Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis: 3M Syndrome. Oxford Medicine Online. 3e.d. [S.l.: s.n.] ISBN 9780199934522. doi:10.1093/med/9780199934522.001.0001 
  7. «3-M syndrome». Genetics Home Reference (GHR). 12 de dezembro de 2017 
  8. Holder-Espinasse, Valérie; Irving, Melita; Cormier-Daire (2 de março de 2011). «Clinical utility gene card for: 3M syndrome». European Journal of Human Genetics. 19 (9). 1017 páginas. PMC 3179355Acessível livremente. PMID 21364696. doi:10.1038/ejhg.2011.32 

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