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Sequence of this protein is as follows: ASWLVCLCCR QPLISKAFEI MLAAGEGKGV NKRITYTNPY PSRRTFHLHS DHPELLRFRE DSFQVGGGET YTIGLQFAPS QRVGEEEILI YINDHEDKNE EAFCVKVIYQ
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. Alternative splicing results in multiple transcript variants.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Nephrocystin-4; Nephroretinin; POC10 centriolar protein homolog
Gene Aliases: KIAA0673; NPHP4; POC10; SLSN4
UniProt ID: (Human) O75161
Entrez Gene ID: (Human) 261734
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