Request Demo

Last update 08 May 2025

GHB receptor

Last update 08 May 2025

Basic Info

Synonyms

D15Ertd747e, FLJ11856, G protein-coupled receptor 172A

+ [14]

Introduction

(Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A). Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4-hydroxybutyrate (Probable).

Drugs associated with GHB receptor

NCS-382

Target

GHB receptor

Mechanism

GHB receptor antagonists

Active Org.

University of Copenhagen

Originator Org.

University of Copenhagen

Active Indication

Ischemic stroke [+1]

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

UMB-73

Target

GHB receptor

Mechanism

GHB receptor agonists

Active Org.-

Originator Org.

The University of Texas System

Active Indication-

Inactive Indication

Narcolepsy

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

UMB86

Target

GABA-T x GHB receptor

Mechanism

GABA transaminase agonists [+1]

Active Org.-

Originator Org.

The University of Texas System

Active Indication-

Inactive Indication

Narcolepsy

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with GHB receptor

100 Translational Medicine associated with GHB receptor

0 Patents (Medical) associated with GHB receptor

358

Literatures (Medical) associated with GHB receptor

01 Jun 2025·Brain and Development

Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes

Article

Author: Houlden, Henry ; Gowda, Vykuntaraju K ; Efthymiou, Stephanie ; Varalakshmi, Perumal ; Ashokkumar, Balasubramaniem ; Gayathri, Santhalingam ; Chatterjee, Chitral ; Matheshwaran, Saravanan ; Aravind, Manikka Kubendran

BACKGROUNDBVVLS (Brown-Vialetto-Van Laere syndrome), a rare genetic condition characterized by progressive neuropathy, is caused by defects in SLC52A2 and SLC52A3 genes coding for hRFVT-2 and hRFVT-3.METHODSFive BVVLS cases were screened for disease-causing variants using exome sequencing and their functional contributions were evaluated by in silico analysis, riboflavin transport assay and confocal imaging.RESULTSProbands enrolled in this study were presented with unusual phenotypes like syndactyly, polydactyly, pedal edema and chronic osteomyelitis. Genetic testing disclosed heterozygous variants in all five cases including c.229G>A p.E77K, c.384G>A p.S128S, c.1245C>T p.G415G and c.843del p.L282Cfs*8 in SLC52A2 gene and c.833C>T p.T278M, c.907A>G p.I303V and c.62A>G p.N21S in SLC52A3 gene. Among them, p.L282Cfs*8 was diagnosed here for first-time, whereas p.E77K and p.S128S were reported previously with a variation at nucleotide position. Functional analysis of the variant p.E77K, p.S128S, p.T278M and p.I303V evidenced impairment in riboflavin transport, whereas p.G415G and p.L282Cfs*8 showed no significant changes. Despite of having reduction in riboflavin uptake, the presence of same polymorphic variant (p.T278M and p.I303V) in asymptomatic father suggests it as not likely associated with disease phenotypes. Meantime, membranous expression of hRFVT-2 variants p.S128S and p.E77K were abrogated and mostly internalized in cytoplasmic regions of transfected cells, whereas no change was observed with other variants than wild-type.CONCLUSIONThese results show for the first-time that BVVLS associated hRFVT-2 variants p.S128S and p.E77K affected riboflavin transport function due to abrogation in membranous localization and/or activity of the transporter. The polymorphic variants p.T278M and p.I303V of hRFVT-3 are unlikely to be implicated functionally in the pathogenesis of the disease.

01 Apr 2025·Archives of Biochemistry and Biophysics

Production of the recombinant human riboflavin transporters SLC52A1, 3 and functional assay in proteoliposomes

Article

Author: Barile, Maria ; Tolomeo, Maria ; Travo, Luciana ; Nisco, Alessia ; Console, Lara ; Indiveri, Cesare ; Giudice, Deborah

Riboflavin, the FMN and FAD precursor, is a crucial vitamin in cell metabolism. Its adsorption and tissue distribution are mediated by tree membrane transporters namely RFVT1-3. Mutations of their genes are associated with Riboflavin Transporter Deficiency. Moreover, derangements of the level of these transporters have been found in several human cancers. To obtain a suitable experimental tool for studying the function of the single proteins, for testing the effect of pathological mutations and for validating predicted ligands as candidate drugs, we have set up a proteoliposome system harbouring the functional RFVT1 or RFVT3. RFVT proteins have been produced in E. coli and purified to the homogeneity by affinity chromatography. The purified proteins show an apparent molecular mass of 45.6 or 48.4 kDa, which are very close to the theoretical mass of RFVT1 or RFVT3, respectively. The purified transporters have been reconstituted into proteoliposomes using a methodology previously pointed out for RFVT2. The transport of riboflavin shows cooperative kinetics with K_0.5 values of 0.86 or 1.13 μM and Hill coefficients of 1.19 or 1.3 for RFVT1 or RFVT3, respectively. The K_0.5 data of both the transporters are similar the Km reported in intact cell studies. The transporters are inhibited by the riboflavin analogues FMN and lumiflavin in agreement with the molecular docking simulations.

01 Feb 2025·Human Molecular Genetics

Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish

Article

Author: Lochmüller, Hanns ; MacKenzie, Alexander ; Choueiri, Catherine M ; Pena, Izabella ; Spendiff, Sally ; Lau, Jarred ; O’Connor, Emily ; DiBattista, Alicia ; Wong, Brittany Y ; Horvath, Rita

AbstractRiboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively. The resulting impaired mitochondrial metabolism leads to sensorimotor neurodegeneration and symptoms including muscle weakness, respiratory difficulty, and sensorineural deafness. Although over 70% of patients with RTD improve following high-dose riboflavin supplementation, remaining patients either stabilise or continue to deteriorate. This may be due to the rapid excretion of central nervous system (CNS) riboflavin by organic anion transporter 3 (OAT-3), highlighting the need for alternative or supplemental RTD treatments. Probenecid is a promising therapeutic candidate for RTD due to its known inhibitory effect on OAT-3. Therefore, this study aimed to generate morpholino-mediated knockdowns of human SLC52A3 ortholog slc52a3 in zebrafish larvae for use in therapeutic screening of riboflavin and probenecid. Knockdown of slc52a3 resulted in an RTD-like phenotype indicative of altered neurodevelopment, hearing loss, and reduced mobility. This RTD-like phenotype overlaps with the phenotype of CRISPR/Cas9-mediated knockout of slc52a3 in zebrafish, is maintained following slc52a3 morpholino + p53 morpholino co-injection, and is rescued following slc52a3 morpholino + human SLC52A3 mRNA co-injection, indicating specificity of the knockdown. Riboflavin treatment alone ameliorates locomotor activity and hearing ability in slc52a3 morphants. Riboflavin and probenecid co-treatment provides an additional small benefit to hearing but not to locomotion. Our findings demonstrate that this model recapitulates both the RTD phenotype and the riboflavin-responsiveness of RTD patients, and possible therapeutic benefit conferred by probenecid warrants further investigation.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

GHB receptor

Basic Info

Related

Analysis