RIT2 Antibody

1. RIT2 gene was recently introduced as a susceptibility gene in neurological disorders, a group of major problems in human society affecting millions of people worldwide. Several variants, including single nucleotide polymorphisms and CNVs, have been identified and studied in different populations. PMID: 29860660
2. Significant association of RIT2 Polymorphisms was observed between rs12456492 and two disorders, Parkinson's disease and essential tremor PMID: 26941103
3. An RIT2 gene variant was found to be a risk factor for autism spectrum disorder in Iranian patients. PMID: 28190241
4. Findings indicate for the first time, selective advantage for a human-specific allele at an short tandem repeat locus in the human RIT2 core promoter. PMID: 28214997
5. RIT2 rs12456492 do not increase the risk of developing Parkinson's in Han Chinese. PMID: 27889863
6. The current meta-analysis suggested that rs12456492 might be associated with increased PD risk in Asian populations, but studies using larger sample sizes and different ethnic populations will be needed to further confirm this association. PMID: 26334395
7. findings increase the likelihood of association between Parkinson's disease and RIT2 variant in Asian populations PMID: 25146456
8. performed a case-control replication study in this population and investigated RIT2 rs12456492 variant in a large cohort of Chinese Han individuals PMID: 25559334
9. Its polymorphism is associated with Parkinson's disease in a Han Chinese population. PMID: 25457028
10. The data of this study suggested that the RIT2 polymorphisms are associated with Parkinson disease etiology. PMID: 25534083
11. the G allele, GG and GA genotype of rs12456492(A/G) polymorphism may increase the risk of Parkinson disease. [meta-analysis] PMID: 26188085
12. failed to replicate the RIT2 rs12456492 variant as a genetic risk factor for Parkinson's disease in our population. PMID: 23635658
13. These studies confirm the expression of RIT2 in retinal neuronal cells. PMID: 23805044
14. This meta-analysis identifies a novel Parkinson's disease locus, RIT2, that replicates several previously identified loci on chromosome 18. PMID: 22451204
15. Rin interacts directly with dopamine transporter DAT in a protein kinase (PK)C-regulated manner and is required for PKC-mediated DAT internalization. PMID: 21957239
16. Modulates the activation of the Brn-3a regulated egr-1 promoter by the N-terminal domain of Brn-3a PMID: 12934100
17. Neuron-specific small GTPase Rin is involved in downstream signaling of plexin B3. PMID: 16122393
18. observations establish Rin as a neuronal specific regulator of neurotrophin signaling, required to couple NGF stimulation to sustain activation of p38 MAP kinase and b-Raf signaling cascades required for neuronal development PMID: 16157584

Show More

Hide All

HGNC: 10017

OMIM: 609592

KEGG: hsa:6014

STRING: 9606.ENSP00000321805

UniGene: Hs.464985