GABRD
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| Gamma-aminobutyric acid (GABA) A receptor, delta | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | GABRD; EIG10; EJM7; GEFSP5; MGC45284 | ||||||||||||
| External IDs | OMIM: 137163 MGI: 95622 HomoloGene: 55489 IUPHAR: δ GeneCards: GABRD Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 2563 | 14403 | |||||||||||
| Ensembl | ENSG00000187730 | ENSMUSG00000029054 | |||||||||||
| UniProt | O14764 | Q14AH9 | |||||||||||
| RefSeq (mRNA) | NM_000815 | NM_008072.2 | |||||||||||
| RefSeq (protein) | NP_000806 | NP_032098.2 | |||||||||||
| Location (UCSC) | Chr 1: 1.95 – 1.96 Mb |
Chr 4: 154.76 – 154.77 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Gamma-aminobutyric acid receptor subunit delta is a protein that in humans is encoded by the GABRD gene.[1][2][3]
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit.[3]
Contents |
[edit] See also
[edit] References
- ^ Sommer B, Poustka A, Spurr NK, Seeburg PH (Feb 1991). "The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1". DNA Cell Biol 9 (8): 561–8. doi:10.1089/dna.1990.9.561. PMID 2176788.
- ^ Emberger W, Windpassinger C, Petek E, Kroisel PM, Wagner K (Sep 2000). "Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping". Cytogenet Cell Genet 89 (3-4): 281–2. doi:10.1159/000015636. PMID 10965146.
- ^ a b "Entrez Gene: GABRD gamma-aminobutyric acid (GABA) A receptor, delta". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2563.
[edit] Further reading
- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Lenzen KP, Heils A, Lorenz S, et al. (2005). "Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.". Epilepsy Res. 65 (1-2): 53–7. doi:10.1016/j.eplepsyres.2005.04.005. PMID 16023832.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Windpassinger C, Kroisel PM, Wagner K, Petek E (2002). "The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.". Gene 292 (1-2): 25–31. doi:10.1016/S0378-1119(02)00649-2. PMID 12119096.
[edit] External links
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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