For example, the related proteins RPGRIP1L (OMIM: 610937; also known as NPHP8 or MKS5) and RPGRIP1 (OMIM: 605446) are both highly expressed and contribute to TZ assembly in mouse embryonic fibroblasts and kidney cell lines, but in patients and mice only RPGRIP1L mutations contribute to syndromic phenotypes, whilst RPGRIP1 mutations cause non-syndromic inherited retinal dystrophy 23. The gene discussed is RPGRIP1L; the disease is Retinal dystrophy.