NPHP3, Official Symbol NPHP3provided by HGNC Official Full Name nephrocystin 3provided by HGNC Primary source HGNC:HGNC:7907 See related Ensembl:ENSG00000113971 MIM:608002; AllianceGenome:HGNC:7907 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MKS7; NPH3; RHPD; RHPD1; SLSN3; CFAP31 Summary This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in ovary (RPKM 12.5), endometrium (RPKM 10.4) and 25 other tissues See more Orthologs mouse all