Serologically defined colon cancer antigen 8 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''SDCCAG8''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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, an ...
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
In genetics, dominance is the phenomenon of one variant ...
-related
ciliopathies.
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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