RPGRIP1L
From Infogalactic: the planetary knowledge core
| RPGRIP1-like | |
|---|---|
| Identifiers | |
| Symbol | RPGRIP1L |
| Alt. symbols | NPHP8, KIAA1005, CORS3, JBTS7, MKS5, FTM |
| Entrez | 23322 |
| HUGO | 29168 |
| OMIM | 610937 |
| RefSeq | NM_015272 |
| UniProt | Q68CZ1 |
| Other data | |
| Locus | Chr. 16 q12.2 |
Function
The protein encoded by this gene is localized to primary cilia and centrosomes in ciliated human epithelial kidney cells. RPGRIP1L colocalized at the basal body-centrosome complex with the proteins NPHP4, NPHP6, and TUBG1.[2][3]
Clinical significance
Mutations in the RPGRIP1L gene are associated with Joubert syndrome and Meckel syndrome which belong to a group of developmental autosomal recessive disorders that are associated with cilium dysfunction.[2] Mutations in this gene are also associated with nephronophthisis.[4] Copy number variation affecting the gene was associated with schizophrenia in one study.[5]
References
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- ↑ Gene Overview of All Published Schizophrenia-Association Studies for RPGRIP1L - SzGene database at Schizophrenia Research Forum.
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