RHPN1

Chr 8

rhophilin Rho GTPase binding protein 1

Also known as: ODF5, RHOPHILIN, RHPN

NCBI Gene: 114822 ENSG00000158106 UniProt: Q8TCX5

RHPN1 encodes a protein that serves as a target for Rho signaling and interacts with cytoskeletal components to regulate stress fiber assembly and focal adhesion formation. Mutations cause autosomal recessive nephronophthisis with retinal dystrophy, typically presenting in childhood with progressive kidney disease and vision loss. The gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in negative regulation of stress fiber assembly. Predicted to act upstream of or within several processes, including focal adhesion assembly; glomerular filtration; and renal albumin absorption. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.11

LOEUF

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Mechanism

Some data sources returned errors (1)