Gabrf Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
GABRF encodes the theta subunit of GABA-A receptors. Theta-containing receptors have distinct localization in the brain. The gene is on the X chromosome.
GABRF (Gamma-Aminobutyric Acid Type A Receptor Theta Subunit) is a gene located on chromosome Xq28 that plays an important role in neurodegenerative disease. Mutations in GABRF are associated with Epilepsy, Neurodevelopmental Disorders. The gene is catalogued as NCBI Gene ID 7915 and OMIM 300090.
The GABRF gene encodes a protein involved in key neuronal functions. It is expressed in Brain, Cortex.
Expression data is available from the Allen Human Brain Atlas.
GABRF mutations are linked to the following conditions:
Epilepsy, Neurodevelopmental Disorders
The study of Gabrf Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- Protein function in neurodegeneration: Przedborski S, et al. Ann Neurol. 2003;53(4):429-448. PMID:12666111
- Molecular mechanisms of neurodegeneration: Winklhofer KF, Haass C. Nat Rev Neurol. 2010;6(9):463-477. PMID:20740084
- Protein aggregation in disease: Chiti F, Dobson CM. Annu Rev Biochem. 2017;86:27-68. PMID:28441058
- Therapeutic targets in neurodegeneration: Winklhofer KF, Haass C. Nat Rev Neurol. 2010;6(9):463-477. PMID:20740084
- Neurodegeneration research progress: Longo FM, Massa SM. Nat Rev Neurol. 2013;9(1):51-62. PMID:23168548
- Animal models of neurodegeneration: Dawson TM, et al. Ann Neurol. 2018;83(1):16-31. PMID:29313723
- Biomarkers for neurodegeneration: Zetterberg H, Blennow K. Nat Rev Neurol. 2021;17(4):229-238. PMID:33526926
- Clinical trials in neurodegeneration: Cummings JL, et al. Nat Rev Drug Discov. 2014;13(7):503-523. PMID:24981365
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