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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| NPHP3-20-RE | 20 (40 μL) | 200 μL |  |
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| NPHP3-20-OR | 20 (40 μL) | 200 μL |  |
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| NPHP3-20-GO | 20 (40 μL) | 200 μL |  |
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| NPHP3-20-GR | 20 (40 μL) | 200 μL |  |
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| NPHP3-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : NPHP3
Gene Name : Nephrocystin 3
Chromosome : CHR 3: 132,722,458-132,680,608
Locus : 3q22.1
Alt. Genes : ENAM
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