ARHGEF18

Disease Category: autosomal recessive

Treatment Options: None known

Patient Population: less than 5

Strategies to Preserve Eye Health: None known

Known Clinical Trials: None known

Check clinicaltrials.gov for updates

Institution(s) Conducting Research: None known

A FACE OF RP

tbd

BRIEF DESCRIPTION

ARHGEF18 (Rho/Rac Guanine Nucleotide Exchange Factor 18) is a Protein Coding gene. Diseases associated with ARHGEF18 include Retinitis Pigmentosa 78 and Retinitis Pigmentosa. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by Rho GTPases.

ARHGEF18 is involved in the formation of tight junctions and barriers in epithelial cells. It also helps determine apicobasal polarity in epithelia. Mutations in ARHGEF18 are associated with retinitis pigmentosa and inherited retinal dystrophy (IRD). ARHGEF18 is expressed in several tissues, including lymphoid tissues. ARHGEF18 is localized to the cytosol and the plasma membrane.

IN THE NEWS

Nov 27, 2020

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwi

Considering that EYS is the major causative gene of RP in Japan, researchers conducted stepwise genetic screening of 220 Japanese patients.

Jan 26, 2017

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum