" /> GNB5 wt Allele - CISMeF





Preferred Label : GNB5 wt Allele;

NCIt synonyms : Guanine Nucleotide-Binding Protein, Beta Subunit 5L Gene; G Protein, Beta Subunit 5L Gene; HG2E; Heterotrimeric Guanine Nucleotide-Binding Protein 2E Gene; LADCI; LDMLS1; LDMLS2; Guanine Nucleotide-Binding Protein, Beta 5 Gene; Gbeta5 Gene; G Protein Subunit Beta 5 wt Allele; GB5; gbeta5; Guanine Nucleotide Binding Protein (G Protein), Beta 5 Gene; IDDCA;

NCIt definition : Human GNB5 wild-type allele is located in the vicinity of 15q21.2 and is approximately 76 kb in length. This allele, which encodes guanine nucleotide-binding protein subunit beta-5 protein, is involved in the downregulation of G protein-coupled receptor signaling. Mutation of the gene is associated with intellectual developmental disorder with cardiac arrhythmia (IDDCA) and language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI); also known as Lodder-Merla syndrome types 1 and 2, respectively.;

NCI Metathesaurus CUI : CL1920868;

GenBank Accession Number : AF017656;

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31/07/2025


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