Anti-kiaa0753 rat monoclonal antibody 5h3

This antibody recognizes the human KIAA0753 protein (also named OFIP or MNR). The epitope is located at the carboxy terminus of the protein, between residues 763 and 884. It detects endogenous KIAA0753 in various cell lines using immunoblot and immunofluorescence techniques.

Interest / Relevance: KIAA0753 is a centrosome and centriolar satellite protein involved in primary cilia formation and centriole duplication. The KIAA0753 gene is mutated in somes patients with Joubert and OFD syndroms, two ciliopathies of genetic origin. This antibody is of interest both in a basic research and clinical context.

Keywords: Cilia , Centrosome , Ciliopathy

Scientist's name: Olivier ROSNET
Daniel BIRNBAUM,Véronique CHEVRIER

Publications:

1).Chevrier V. Bruel A.L. Van Dam T.J. Franco B. Lo Scalzo M. Lembo F. Audebert S. Baudelet E. Isnardon D. Bole A. et al. (2016) OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Hum Mol Genet 25 497-513.2).Hammarsjo A. Wang Z. Vaz R. Taylan F. Sedghi M. Girisha K.M. Chitayat D. Neethukrishna K. Shannon P. Godoy R. et al. (2017) Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Scientific reports 7 15585.3).Stephen J. Vilboux T. Mian L. Kuptanon C. Sinclair C.M. Yildirimli D. Maynard D.M. Bryant J. Fischer R. Vemulapalli M. et al. (2017) Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. Hum Genet 136 399-408.

Reference:

RT00503