Nephrocystin-4 is a
protein that in humans is encoded by the ''NPHP4''
gene.
This gene encodes a protein which contains a
proline
Proline (symbol Pro or P) is an organic acid classed as a proteinogenic amino acid (used in the biosynthesis of proteins), although it does not contain the amino group but is rather a secondary amine. The secondary amine nitrogen is in the prot ...
-rich region. The encoded protein may function in
renal tubular development and function.
This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative
transcript variants have been described but their full-length nature has not been determined.
References
Further reading
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