5ng4 | pdb_00005ng4
From Proteopedia
Human CEP135 parallel dimeric coiled coil 82-144
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Structural highlights
Disease[CP135_HUMAN] Autosomal recessive primary microcephaly. The disease is caused by mutations affecting the gene represented in this entry. Function[CP135_HUMAN] Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.[1] [2] [3] References
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This page was last modified 07:56, 2 May 2018.