centrosomal protein 290
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The CEP290 gene provides instructions for making a protein that is present in many types of cells, including in the eye's light receptor cells (photoreceptors). Although this protein's function is not well understood, studies suggest that it plays an important role in cell structures called centrosomes and cilia. Centrosomes are involved in cell division and the assembly of microtubules, which are proteins that transport materials in cells and help the cell maintain its shape. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Cilia are involved in cell movement and many different chemical signaling pathways. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). The CEP290 protein is likely necessary for vision by playing a role in transporting proteins within photoreceptors.
Normal function
The CEP290 gene provides instructions for making a protein that is present in many types of cells, including in the eye's light receptor cells (photoreceptors). Although this protein's function is not well understood, studies suggest that it plays an important role in cell structures called centrosomes and cilia. Centrosomes are involved in cell division and the assembly of microtubules, which are proteins that transport materials in cells and help the cell maintain its shape. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Cilia are involved in cell movement and many different chemical signaling pathways. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). The CEP290 protein is likely necessary for vision by playing a role in transporting proteins within photoreceptors.
Conditions referring to this gene or chromosome
Other names
3H11Ag
BBS14
cancer/testis antigen 87
CE290_HUMAN
centrosomal protein 290kDa
centrosomal protein of 290 kDa
CT87
CTCL tumour antigen se2-2
FLJ13615
FLJ21979
JBTS5
JBTS6
KIAA0373
LCA10
MKS4
monoclonal antibody 3H11 antigen
nephrocytsin-6
NPHP6
POC3
POC3 centriolar protein homolog
prostate cancer antigen T21
rd16
SLSN6
tumour antigen se2-2
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قراءة إضافية ومراجع
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