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C216205Level 6

GABRG2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GABRG2 wild-type allele is located 5q34 and is approximately 163 kb in length. This allele, which encodes gamma-aminobutyric acid receptor subunit gamma-2 protein, plays a role in gamma-aminobutyric acid-dependent chloride ion transport. Mutations in the gene are associated with developmental and epileptic encephalopathy 74, generalized epilepsy with febrile seizures plus 3 and familial febrile seizures 8.

**Synonyms:** - CAE2 - DEE74 - ECA2 - EIEE74 - FEB8 - GABA(A) Receptor, Gamma 2 Gene - GABA-A Receptor, Gamma-2 Polypeptide Gene - GEFSP3 - Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2 Gene - Gamma-Aminobutyric Acid Receptor, Gamma-2 Gene - Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit Gene - Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2 wt Allele

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