RPGRIP1L is a human

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

Function

The protein encoded by this gene is localized to primary

cilia The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projecti ...

and

centrosome In cell biology, the centrosome (Latin centrum 'center' + Greek sōma 'body') (archaically cytocentre) is an organelle that serves as the main microtubule organizing center (MTOC) of the animal cell, as well as a regulator of cell-cycle pro ...

s in ciliated human epithelial kidney cells and retinal pigment epithelial cells . RPGRIP1L colocalized at the basal body-centrosome complex with the proteins NPHP4, NPHP6, and

TUBG1 Tubulin, gamma 1 is a protein in humans that is encoded by the TUBG1 gene. This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as th ...

. Also, it can interact with MyosinVa

Clinical significance

Mutations in the RPGRIP1L gene are associated with Joubert syndrome and Meckel syndrome which belong to a group of developmental

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

disorders that are associated with

cilium The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike proje ...

dysfunction. Mutations in this gene are also associated with nephronophthisis. Copy number variation affecting the gene was associated with

schizophrenia Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social wi ...

in one study.Gene Overview of All Published Schizophrenia-Association Studies for RPGRIP1L
– SzGene database at Schizophrenia Research Forum. A genetic variation within the RPGRIP1L gene, rs3213758, is associated with increased BMI. Genetic variations strongly associated with obesity within the FTO gene have also been implicated in the control of RPGRIP1L expression. Mice with decreased expression of RPGRIP1L are fatter, eat more, have diminished sensitivity to the hormone

leptin Leptin (from Greek λεπτός ''leptos'', "thin" or "light" or "small") is a hormone predominantly made by adipose cells and enterocytes in the small intestine that helps to regulate energy balance by inhibiting hunger, which in turn dimi ...

that normally reduces food intake, and display altered morphology of the brain center that regulates feeding. Similarly, cells derived from Joubert patients with RPGRIP1L mutations have decreased leptin sensitivity, and neurons important for food intake segregating for obesity-risk variations at the FTO locus have decreased RPGRIP1L expression and diminished outgrowth. These studies suggest that RPGRIP1L is a gene important in human obesity.

References

{{gene-16-stub