Ask about this productRelated genes to: OR1C1 antibody
- Gene:
- OR1C1 NIH gene
- Name:
- olfactory receptor family 1 subfamily C member 1
- Previous symbol:
- -
- Synonyms:
- TPCR27, HSTPCR27
- Chromosome:
- 1q44
- Locus Type:
- gene with protein product
- Date approved:
- 1999-11-16
- Date modifiied:
- 2015-12-09
Related products to: OR1C1 antibody
Related articles to: OR1C1 antibody
- G-protein coupled receptors (GPCRs) are a diverse group of membrane proteins crucial for transmitting extracellular signals into cells, regulating numerous neurological processes. Among GPCRs, orphan receptors, whose natural ligands and functions remain unidentified, have garnered increasing research attention. Olfactory receptors (ORs), the most diverse GPCR family, are widely expressed in the central nervous system (CNS) and are implicated in autism spectrum disorder (ASD) and related behavioral and psychiatric conditions. This review highlights the altered expression of specific orphan and olfactory GPCRs-such as RORα, RORβ, GPR37, GPR62, OR1C1, and OR52M1-and their roles in ASD development. It explores their mechanisms of action, neural network interactions, and contributions to ASD etiology, as well as associated disorders like ADHD, schizophrenia, epilepsy, anxiety, depression, and sleep disorders. The review also addresses challenges in orphan GPCR research, such as identifying ligands and understanding their physiological roles, while emphasizing their potential as therapeutic targets. By summarizing preclinical and clinical findings, this review underscores the emerging significance of orphan receptors in ASD, offering a foundation for future research to advance understanding and develop innovative treatments for autism and related conditions. - Source: PubMed
Gholamalizadeh HaniehBaradaran Rahimi VafaAskari Vahid Reza - Autism spectrum disorders (ASDs) are diagnosed in 1/100 children worldwide, based on two core symptoms: deficits in social interaction and communication, and stereotyped behaviours. G protein-coupled receptors (GPCRs) are the largest family of cell-surface receptors that transduce extracellular signals to convergent intracellular signalling and downstream cellular responses that are commonly dysregulated in ASD. Despite hundreds of GPCRs being expressed in the brain, only 23 are genetically associated with ASD according to the Simons Foundation Autism Research Initiative (SFARI) gene database: oxytocin OTR; vasopressin V and V; metabotropic glutamate mGlu and mGlu; GABA; dopamine D, D and D; serotoninergic 5-HT; β-adrenoceptor; cholinergic M; adenosine A and A; angiotensin AT; cannabinoid CB; chemokine CXCR1; orphan GPR37 and GPR85; and olfactory OR1C1, OR2M4, OR2T10 and OR52M1. Here, we review the therapeutic potential of these 23 GPCRs, as well as 5-HT and 5-HT, for ASD. For each GPCR, we discuss its genetic association, genetic and pharmacological manipulation in animal models, pharmacopoeia for core symptoms of ASD and rank them based on these factors. Among these GPCRs, we highlight D, 5-HT, CB, OTR and V as the more promising targets for ASD. We discuss that the dysregulation of GPCRs and their signalling is a convergent pathological mechanism of ASD. Their therapeutic potential has only begun as multiple GPCRs could mitigate ASD. LINKED ARTICLES: This article is part of a themed issue Complexity of GPCR Modulation and Signaling (ERNST). To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v182.14/issuetoc. - Source: PubMed
Publication date: 2023/09/07
Annamneedi AnilGora CarolineDudas AnaLeray XavierBozon VéroniqueCrépieux PascalePellissier Lucie P - Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic tests, particularly for genetic counseling purposes. Chromosomal microarray analysis (CMA) was conducted in a unique collection of 144 Brazilian individuals with ASD of strong European and African ancestries. Rare CNVs were detected in 39 patients: 41 of unknown significance (VUS), four pathogenic and one likely pathogenic CNVs (clinical yield of 4.1%; 5/122). Based on gene content and recurrence in three large cohorts [a Brazilian neurodevelopmental disorder cohort, the autism MSSNG cohort, and the Canadian-based Centre for Applied Genomics microarray database], this work strengthened the pathogenicity of 14 genes (FAT1, CAMK4, BIRC6, DPP6, CSMD1, CTNNA3, CDH8/CDH11, CDH13, OR1C1, CNTN6, CNTNAP4, FGF2 and PTPRN2) within 14 CNVs. Notably, enrichment of cell adhesion proteins to ASD etiology was identified (p < 0.05), highlighting the importance of these gene families in the etiology of ASD. - Source: PubMed
Publication date: 2021/11/15
Costa Claudia Ismania Samogyda Silva Montenegro Eduarda MorganaZarrei Mehdide Sá Moreira EloísaSilva Isabela Maya Wahysde Oliveira Scliar MaríliaWang Jaqueline Yu TingZachi Elaine CristinaBranco Elisa Varellada Costa Silvia SouzaLourenço Naila Cristina VilaçaVianna-Morgante Angela MariaRosenberg CarlaKrepischi Ana Cristina VictorinoScherer Stephen WPassos-Bueno Maria Rita