GABRD

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Gamma-aminobutyric acid (GABA) A receptor, delta
Identifiers
Symbol(s) GABRD; MGC45284
External IDs OMIM: 137163 MGI95622 HomoloGene55489
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 2563 14403
Ensembl ENSG00000187730 ENSMUSG00000029054
Uniprot O14764 Q14AH9
Refseq NM_000815 (mRNA)
NP_000806 (protein)
NM_008072 (mRNA)
NP_032098 (protein)
Location Chr 1: 1.94 - 1.95 Mb Chr 4: 154.23 - 154.24 Mb
Pubmed search [1] [2]

Gamma-aminobutyric acid (GABA) A receptor, delta, also known as GABRD, is a human gene.[1]

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.[1]

Contents

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[edit] References

[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. PMID 16344560. 
  • 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. PMID 15489334. 
  • 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. PMID 12477932. 
  • 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. PMID 12119096. 
  • Emberger W, Windpassinger C, Petek E, et al. (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. PMID 10965146. 
  • Sommer B, Poustka A, Spurr NK, Seeburg PH (1991). "The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1.". DNA Cell Biol. 9 (8): 561–8. PMID 2176788. 

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.