Gene: NPHP3-AS1

Alternate names for this Gene: NCRNA00119

Gene Summary:

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: NPHP3 antisense RNA 1

Type of Gene: ncRNA

Gene: NPHP3

Alternate names for this Gene: CFAP31|MKS7|NPH3|RHPD|RHPD1|SLSN3

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: nephrocystin 3

Type of Gene: protein-coding

Gene: NPHP3-ACAD11

Alternate names for this Gene: NPHP3

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: NPHP3-ACAD11 readthrough (NMD candidate)

Type of Gene: ncRNA

rs771742823 in NPHP3-AS1;NPHP3;NPHP3-ACAD11 gene and NEPHRONOPHTHISIS 3 PMID 28921755 2017 Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.