NCBI Description of NPHP4
|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. CCDS Note: This CCDS representation is supported by transcript data, including AF537130.1 and AY118228.1. The encoded 1426 aa protein is also supported by homology data, including mouse NP_700473.2 (CCDS38985.1). However, it should be noted that the splice acceptor site of exon 21 is 'TG' in the current reference genome build (GRCh37). This non-canonical splice acceptor represents a rare polymorphism in human populations, as indicated in the Reference SNP rs1287637, while the majority of individuals carry an allele with a canonical 'AG' acceptor. Data in PMID:16131712 indicate that individuals homozygous for the 'TG' sequence produce transcripts that lack the beginning of exon 21, and instead, 'AG' splice acceptors located 6 nt or 42 nt into this exon are used. Therefore, these individuals may not produce full-length proteins, as represented by this CCDS ID. It is unknown if this polymorphism is associated with diseases linked to this gene, which include nephronophthisis type 4 and Senior-Loken syndrome type 4.|
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