8jhi
From Proteopedia
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8jhi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8jhi OCA], [https://pdbe.org/8jhi PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8jhi RCSB], [https://www.ebi.ac.uk/pdbsum/8jhi PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8jhi ProSAT]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8jhi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8jhi OCA], [https://pdbe.org/8jhi PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8jhi RCSB], [https://www.ebi.ac.uk/pdbsum/8jhi PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8jhi ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| - | == Disease == | ||
| - | [https://www.uniprot.org/uniprot/GNAS1_HUMAN GNAS1_HUMAN] The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed. The disease is caused by variants affecting the gene represented in this entry. | ||
| - | == Function == | ||
| - | [https://www.uniprot.org/uniprot/GNAS1_HUMAN GNAS1_HUMAN] Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity).[UniProtKB:Q6R0H7] | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
Current revision
FZD3-Gs complex
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