RPGRIP1-LIKE
The gene RPGRIP1L encodes a centrosome associated protein involved in microtubule organization. Mutations cause various autosomal recessive ciliopathies such as Meckel syndrome 5, Joubert syndrome 7, nephronophthisis 08 and COACH syndrome.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
|
2. |
Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
|
3. |
Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
|
4. |
Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
5. |
Arts HH et al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
|
6. |
Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
|
7. |
Brancati F et al. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
|
8. |
Wolf MT et al. (2007) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
|
9. |
OMIM.ORG article
Omim 610937
|
10. |
Orphanet article
Orphanet ID 140541
|
11. |
NCBI article
NCBI 23322
|
12. |
Wikipedia article
Wikipedia EN (RPGRIP1L)
|
Update: Aug. 14, 2020