GNB5 wt Allele

**Semantic type:** Gene or Genome

**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.

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