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nphp4

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Official Full Name
nephronophthisis 4
Background
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa.
Synonyms
NPHP4; nephronophthisis 4; nephrocystin-4; KIAA0673; nephrocystin 4; nephroretinin; POC10; POC10 centriolar protein homolog (Chlamydomonas); SLSN4; NPHP4_HUMAN; POC10 centriolar protein homolog; FLJ46306