ADCY5 Antibody

1. Depression and psychosis are described as a part of the ADCY5-related dyskinesia phenotypic spectrum. PMID: 30172639
2. Mutations in ADCY5 are responsible for a hyperkinetic movement disorder that can be preceded by episodic attacks before the movement disorder becomes persistent and is frequently misdiagnosed as dyskinetic cerebral palsy. PMID: 28511835
3. In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia PMID: 28442302
4. ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes. PMID: 28229249
5. ADCY5 gene mutations can present with a wider variety of movement disorder syndromes. PMID: 27061943
6. ADCY5, which encodes adenylyl cyclase type 5, and RAP2C, which encodes a member of the RAS oncogene family, had associations of nearly genomewide significance. ADCY5 locus have been reported to be associated with birth weight and type 2 diabetes however, none were in linkage disequilibrium with the SNPs showing significant association with gestational duration. PMID: 28877031
7. These data suggest that rs11708067-A risk allele contributes to type 2 diabetes by disrupting an islet enhancer, which results in reduced ADCY5 expression and impaired insulin secretion. PMID: 28684635
8. This study demonstrated that whole-exome sequencing show reveled ADCY5 mutation with early-onset generalized dystonia. PMID: 27666935
9. the clinical spectrum of ADCY5 mutations encompasses paroxysmal weakness in addition to paroxysmal dyskinesia and persistent hyperkinesia, nominating ADCY5 mutations as a genetic cause of unexplained alternating hemiplegia of childhood. PMID: 27931826
10. This study showed that ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.( PMID: 26686870
11. Risk alleles for 6 loci increased glucose levels from birth to 5 years of age (ADCY5, ADRA2A, CDKAL1, CDKN2A/B, GRB10, and TCF7L2 PMID: 27049325
12. changes in adipose tissue ADCY5 expression are related to obesity and fat distribution. PMID: 25793868
13. This study identification of ADCY5 mutations in one family with dyskinesia-facial myokymia and in two unrelated sporadic cases of paxoysmal choreic/dystonia-facial myokymia. PMID: 25545163
14. these results suggest that AnxA4 is a novel direct negative regulator of AC5, adding a new facet to the functions of annexins. PMID: 26023182
15. Mutations in ADCY5 were linked to benign hereditary chorea. PMID: 26085604
16. LRs are essential not only for the proper membrane distribution and maintenance of AC5/6 activity but also for the regulation of D1R- and D5R-mediated AC signaling. PMID: 25049074
17. Alterations in beta-cell ADCY5 expression and impaired glucose signaling thus provide a likely route through which ADCY5 gene polymorphisms influence fasting glucose levels and T2D risk, while exerting more minor effects on incretin action PMID: 24740569
18. the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia PMID: 24700542
19. AC5, by binding active Galphai1, interferes with G-protein deactivation and reassembly and thereby might sensitize its own regulation. PMID: 23841650
20. Polymorphisms ADCY5 are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression. PMID: 23278386
21. no detectable effect (with an OR >2.1) of the variants in GCKR, GIPR, ADCY5 and VPS13C on the response to sulfonylurea treatment, indicating that these variants are not significantly contributing to the risk of SH in patients with T2D PMID: 22956255
22. results demonstrate a crosstalk between two metabotropic and one ionotropic purinergic receptor that regulates cAMP levels through adenylate cyclase 5 and modulates axonal elongation triggered by neurotropic factors and the PI3K-Akt-GSK3 pathway PMID: 22250198
23. Alleles of single nucleotide polymorphisms in GLIS3 and ADCY5 may confer risk of type 2 diabetes. PMID: 21949744
24. The SNP in ADCY5 is implicated in defective proinsulin-to-insulin conversion and previous findings on the role of a genetic variant in MADD on proinsulin-to-insulin conversion, were confirmed. PMID: 21887289
25. The role of four loci (ADCY5, GIPR, GCKR and VPS13C) in early impairment of glucose and insulin metabolism in children, was investigated. PMID: 21789219
26. Data show low birth weight in Asian Indians is not due to variation near CCNL1/ADCY5, but variant ADCY5 is associated with elevated glucose/decreased insulin response which suggests a common genetic cause of low birth weight and risk of type 2 diabetes. PMID: 21712988
27. a genetic variant of adcy5 leads to asymmetric growth restriction, characterized by a relatively larger head circumference, from third trimester PMID: 21307140
28. Data report a novel association between the fetal ADCY5 type 2 diabetes risk allele and decreased birthweight, and confirm in meta-analyses associations between decreased birthweight and the type 2 diabetes risk alleles of HHEX-IDE and CDKAL1. PMID: 20490451
29. variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight PMID: 20372150
30. Identification of RGS2 and type V adenylyl cyclase interaction sites. PMID: 12604604
31. Adenylyl cyclase V and adenylyl cyclase VI interacts with A-kinase anchoring protein 79 (AKAP79) in a complex that associates with protein kinase A forming a negative feedback loop that termporally regulates cAMP production. PMID: 16973443
32. G protein betagamma subunits stimulate type V and VI adenylyl cyclases PMID: 17110384

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HGNC: 236

OMIM: 600293

KEGG: hsa:111

STRING: 9606.ENSP00000419361

UniGene: Hs.593292