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.;