nephrocystin-3 (NPHP3, KIAA2000)

Function

• role in mechanosensation in primary cilium of kidney cells
• interacts with NPHP1.

Structure

• contains 11 TPR repeats

Alternative splicing

named isoforms=7

Expression

• widely expressed at low level
• expressed in heart, placenta, liver, skeletal muscle, kidney pancreas
• expressed at very low level in brain & lung

Pathology

• defects in NPHP3 are the cause of nephronophthisis 3

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/604387
• OMIM: https://mirror.omim.org/entry/608002
• UniProt: http://www.uniprot.org/uniprot/Q7Z494.html