nephronophthisis type 11

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nephronophthisis type 11

A disorder (OMIM:613550) characterised by the association of nephronophthisis and hepatic fibrosis, often accompanied by ocular lesions.
 
Molecular pathology
Caused by defects of TMEM67, which encodes meckelin, a key ciliary protein.
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References in periodicals archive ?
Ten causative genes (NPHP1-NPHP9 and NPHP11), all of which generate proteins that localize to a cellular complex known as the primary cilia-centrosome complex, have been identified previouslyUnlike all the known NPHP proteins, XPNPEP3 protein localizes to cellular compartments known as mitochondria.