Serologically defined colon cancer antigen 8 is a
protein that in humans is encoded by the ''SDCCAG8''
gene.
This protein localizes to the
centriole
In cell biology a centriole is a cylindrical organelle composed mainly of a protein called tubulin. Centrioles are found in most eukaryotic cells, but are not present in conifers (Pinophyta), flowering plants (angiosperms) and most fungi, and a ...
s.
Clinical significance
Mutations in SDCCAG8 have been found to cause
nephronophthisis
Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause o ...
-related
ciliopathies
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while a ...
.
Interactions
SDCCAG8 has been shown to interact directly with
OFD1, a protein that is also associated with nephronophthisis-related ciliopathies.
References
Further reading
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