RPGRIP1L is a human gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

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Function

The protein encoded by this gene is localized to primary cilia and centrosome

Centrosome

In cell biology, the centrosome is an organelle that serves as the main microtubule organizing center of the animal cell as well as a regulator of cell-cycle progression. It was discovered by Edouard Van Beneden in 1883...

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

NPHP4

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.-Further reading:...

, NPHP6, and TUBG1

Microtubule nucleation

Microtubules are filaments of the cytoskeleton. They typically form through the polymerization of α- and β-tubulin dimers elongating existing microtubules...

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Clinical significance

Mutations in the RPGRIP1L gene are associated with Joubert syndrome

Joubert syndrome

Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.-Diagnosis:...

 and Meckel syndrome

Meckel syndrome

Meckel syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.Meckel-Gruber syndrome is named for Johann...

 which belong to a group of developmental autosomal recessive disorders that are associated with cilium

Cilium

A cilium is an organelle found in eukaryotic cells. Cilia are slender protuberances that project from the much larger cell body....

 dysfunction. Mutations in this gene are also associated with nephronophthisis

Nephronophthisis

Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease.The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure.It is a form of...

. Copy number variation affecting the gene was associated with schizophrenia

Schizophrenia

Schizophrenia is a mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests itself as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social...

in one study.