NPHP11 | definition of NPHP11 by Medical dictionary
nephronophthisis type 11 (redirected from NPHP11)
nephronophthisis type 11 A disorder (OMIM:613550) characterised by the association of nephronophthisis and hepatic fibrosis, often accompanied by ocular lesions.
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.