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- Table of Contents
Facts about Guanine nucleotide-binding protein G(o) subunit alpha.
Stimulated by RGS14. .
Human | |
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Gene Name: | GNAO1 |
Uniprot: | P09471 |
Entrez: | 2775 |
Belongs to: |
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G-alpha family |
DKFZp686O0962; G-ALPHA-o; GNAO; guanine nucleotide binding protein (G protein), alpha activating activitypolypeptide O; guanine nucleotide binding protein, alpha activating polypeptide O; guanine nucleotide-binding protein G(o) subunit alpha
Mass (kDA):
40.051 kDA
Human | |
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Location: | 16q13 |
Sequence: | 16; NC_000016.10 (56191489..56357444) |
Cell membrane. Membrane; Lipid-anchor.
The Boster Bio: Anti-GNAO1 Marker is a powerful epileptic encephalopathy marker. The GNAO1 gene causes early-onset epileptic encephalopathy. The product allows scientists to submit their results for species, applications, and other special samples. Scientists can also apply for product credits. This product is applicable for all scientists around the world.
The GNAO1 gene encodes a protein called guanine nucleotide-binding protein G(o) subunit alpha. It represents the alpha subunit of the Go heterotrimeric G-protein signal transducing complex. Defects in the GNAO1 gene are known to cause early-onset epileptic encephalopathy. Researchers have identified two transcript variants for the GNAO1 gene, encoding different isoforms. Boster Bio's antibodies have been validated by IHC and WB methods.
The GNAO1 gene is implicated in the development of epilepsy, and its aberrant signaling is linked to multiple neurodevelopmental phenotypes. These include seizures, involuntary movements, and impaired cognitive development. In addition, GNAO1 is known to be resistant to antiepileptic drugs. Consequently, it is crucial to identify and treat epilepsy at an early age.
The GNAO1 gene encodes the guanine nucleotide-binding protein G(o) subunit alpha (G) protein. The protein represents the alpha subunit of the Go heterotrimeric G-protein signal-transduction complex. Early-onset epileptic encephalopathy is caused by defects in this gene. Several reports have implicated two distinct transcript variants in the gene. The GNAO1 gene maps to chromosome 16q13.
The authors acknowledge funding from the European Research Council, the National Institutes of Health, and Boster Bio for their contributions to the study. Research supported by the GNAO1 gene is currently limited to humans. However, the potential for a gene-based drug to treat epilepsy has been demonstrated in humans. Furthermore, GNAO1 has a role in the development of schizophrenia.
The GNAO1 gene is responsible for the early-onset epileptic encephalopathic syndrome, but it is unclear why it causes early-onset epileptic encephalitis. The research team includes Michiel C. Warl and Carlijn R. Hooijmans. The authors also acknowledge their colleagues. The study provides important insights into GNAO1 gene.
Several studies have revealed that the GNAO1 gene may play a role in early-onset epileptic encephalopathic syndrome (EE). Currently, scientists are identifying a genetic mutation that can lead to the development of the disorder. The first patient with GNAO1 disorder carried a novel de novo missense mutation. Computational analyses of the gene have revealed that the novel variant causes structural defects.
One study identified six patients with GNAO1 as the cause of early-onset epileptic encephalopathic syndrome. Five patients had controlled epilepsy while one had refractory seizures. In five patients, structural abnormalities, including brain atrophy, and a thin corpus callosum were observed. A fourth patient had a dilated astrocytoma, but it was removed before the child was diagnosed with the disorder.
In a recent federally funded study, scientists have identified the GNAO1 gene as the most likely cause of epilepsy. The researchers found that mutations in GNAO1 cause an inability to control the gating of norepinephrine. They also discovered that some mutations cause epilepsy while others cause movement disorders. This article will explain the differences between the two types of mutations.
GNAO1 variants were detected in four female patients with epilepsy or movement disorders, and two of the cases included in the study. These four patients were of similar age, gender, and were not affected by miscarriage. Two patients had complex partial seizures, whereas two had generalized tonic-clonic seizures. The other two patients had no underlying cause of epilepsy. However, in all four cases, the GNAO1 gene was responsible for the symptoms of the epilepsy.
Using whole exome sequencing, researchers identified a single de novo variant in GNAO1 that causes epilepsy. The mutation is heterozygous, and results in the amino acid change p.Leu199Pro. The read depth at this position was approximately 38X for the proband and 42X for the progenitors. PCR and Sanger sequencing confirmed the mutation. This variant is unique, not present in any public genomic databases, and was classified as damaging by in silico prediction software.
In addition to these two types of variants, there are three more variants that may be associated with GNAO1 and epilepsy. These variants were found in patients with a range of clinical syndromes, including DD with MD and EIEE. The authors of this study are Richards S, Kehrl JM, Todd L, Carr K, and Whiteley P. They have yet to describe the exact cause of their findings.
Three of the four patients with GNAO1 mutations had seizures and motor developmental delays. In two of these patients, brain magnetic resonance imaging showed thin corpus callosum and progressive cerebral atrophy. Patients with GNAO1 mutations have also shown involuntary movements and abnormalities, although seizure activity is not always present in these cases. This research is ongoing and further studies are needed to determine if this is the cause of epilepsy in these patients.
Mice with mutations in the GNAO1 gene have a low level of susceptibility to the development of epilepsy. In the PTZ kindling test, 8-12-week-old mutant mice were significantly more sensitive to the drug than normal controls. Interestingly, gender was not a factor in the response to PTZ kindling. Mutant males also had elevated sensitivity to PTZ.
PMID: 1901650 by Tsukamoto T., et al. Structure of the human gene and two rat cDNAs encoding the alpha chain of GTP-binding regulatory protein Go: two different mRNAs are generated by alternative splicing.
PMID: 3124840 by Lavu S., et al. Molecular cloning and DNA sequence analysis of the human guanine nucleotide-binding protein Go alpha.