RPGRIP1L

RPGRIP1L is a human gene.^[1]

Function

The protein encoded by this gene is localized to primary

Clinical significance

Mutations in the RPGRIP1L gene are associated with

A genetic variation within the RPGRIP1L gene, rs3213758, is associated with increased BMI.[7]^[8] Genetic variations strongly associated with obesity within the FTO gene have also been implicated in the control of RPGRIP1L expression.^[9] Mice with decreased expression of RPGRIP1L are fatter, eat more, have diminished sensitivity to the hormone leptin that normally reduces food intake, and display altered morphology of the brain center that regulates feeding.^[10][11][12] Similarly, cells derived from Joubert patients with RPGRIP1L mutations have decreased leptin sensitivity,^[10][13] and neurons important for food intake segregating for obesity-risk variations at the FTO locus have decreased RPGRIP1L expression and diminished outgrowth.^[12] These studies suggest that RPGRIP1L is a gene important in human obesity.

References

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

• v
• t
• e