Protein Domain : Serologically defined colon cancer antigen 8 IPR031887

Type  Family
Description  Serologically defined colon cancer antigen 8 (SDCCAG8), also known as CCCAP (centrosomal colon cancer autoantigen protein), is a family of proteins found in eukaryotes. Mutations of SDCCAG8 are associated with nephronophthisis [ ] and Bardet-Biedl syndrome [], as well as schizophrenia. SDCCAG8 is associated with the centrosome [] and interacts with pericentriolar material 1 (PCM1), a centriolar satellite protein crucial for targeting proteins to the centrosome. It regulates centrosomal accumulation of pericentriolar material and neuronal polarisation and migration in the developing mouse cortex [].SDCCAG8 is localized at both centrioles and interacts directly with OFD1 (oral-facial-digital syndrome 1), which is linked to an autosomal recessive cystic kidney disease, NPHP-RC (nephronophthisis-related ciliopathies). Depletion of SDCCAG8 causes kidney cysts and a body axis defect in zebrafish [ ].
Short Name  SDCCAG8

0 Child Features

0 Gene Families

0 Genes

2 Ontology Annotations

0 Parent Features

0 Publications

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