RPGRIP1L
Lua error in Module:Infobox at line 235: malformed pattern (missing ']'). RPGRIP1L is a human gene.[1]
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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This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it. |
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- ↑ Gene Overview of All Published Schizophrenia-Association Studies for RPGRIP1L - SzGene database at Schizophrenia Research Forum.
