5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETransporter
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellular cholesterol transporttrans-Golgi networkrecycling endosomeGolgi apparatusperipheral vascular diseaseupper respiratory tract disorderinjuryendocrine system disease
RELCH (RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing) is a membrane tethering protein that regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network 1. The protein functions by binding to active RAB11-GTP on recycling endosomes and OSBP on Golgi-like membranes, thereby tethering these compartments together 1. RELCH promotes nonvesicular cholesterol transfer between these membrane systems through OSBP-mediated mechanisms 1. In vitro reconstitution studies demonstrated that RELCH depletion impairs cholesterol accumulation at the trans-Golgi network, with cholesterol accumulating instead in late endosomes/lysosomes 1. Beyond its canonical cholesterol transport function, RELCH has been implicated in congenital deafness based on conserved vertebrate brain protein interaction networks 2. The gene has also been identified in fusion events with RET in papillary thyroid carcinoma, where KIAA1468-RET (RELCH-RET) fusions produce aberrant proteins combining RELCH's LisH and coiled-coil domains with RET's tyrosine kinase domain 3. These findings establish RELCH as essential for lipid homeostasis and suggest additional roles in neural development and potential oncogenic contexts.
1
RELCH binds RAB11 and OSBP to mediate nonvesicular cholesterol transport from recycling endosomes to trans-Golgi network through membrane tethering
PMID: 295149192
RELCH is implicated in congenital deafness through conserved vertebrate brain protein interactions
PMID: 405017923
KIAA1468 (RELCH) forms fusion proteins with RET in papillary thyroid carcinoma, combining LisH and coiled-coil domains with RET tyrosine kinase domain
PMID: 30466862⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
peripheral vascular diseaseOpen Targets
upper respiratory tract disorderOpen Targets
endocrine system diseaseOpen Targets
cervical carcinomaOpen Targets
placenta praeviaOpen Targets
hemoglobin D diseaseOpen Targets
hemoglobin E diseaseOpen Targets
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
attention deficit hyperactivity disorderOpen Targets
hereditary attention deficit-hyperactivity disorderOpen Targets
Potocki-Lupski syndromeOpen Targets
dominant beta-thalassemiaOpen Targets
X-linked intellectual disability - psychosis - macroorchidismOpen Targets
X-linked intellectual disability-psychosis-macroorchidism syndromeOpen Targets
tooth diseaseOpen Targets
multinodular goiterOpen Targets
Alzheimer diseaseOpen Targets
Loss of consciousnessOpen Targets
chronic rhinosinusitis with nasal polypsOpen Targets
No pathogenic variants reported on ClinVar for this gene.