| Primary Identifier | IPR039687 | Type | Family |
| Short Name | NPHP1 |
| description | Nephronophthisis (NPHP) is a hereditary cystic kidney disorder that causes renal failure in children and young adults and can be associated with various extrarenal disorders, including retinitis pigmentosa. Six NPHP genes have been identified, one of which, Nephrocystin-1 (NPHP1), is localised to the ciliary transition zone of epithelial cells or its analogous structure, connecting cilia of retinal photoreceptors []. It also plays an essential role in photoreceptor intraflagellar transport []and in later steps of sperm morphogenesis in mice [].This entry also includes C. elegans NPHP1, which may act as a sensory transducer []. |
