World Of Taxonomy
C202659Level 6

KCNQ2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KCNQ2 wild-type allele is located in the vicinity of 20q13.33 and is approximately 72 kb in length. This allele, which encodes potassium voltage-gated channel subfamily KQT member 2 protein, plays a role in neuronal excitability via potassium ion transport. Mutations in the gene are associated with developmental and epileptic encephalopathy 7, myokymia and benign familial neonatal convulsions type 1 (BFNC; benign neonatal epilepsy 1; EBN1).

**Synonyms:** - BFNC - DEE7 - EBN - EBN1 - ENB1 - HNSPC - KCNA11 - KV7.2 - Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 2 Gene - Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 2 Gene - Potassium Channel, Voltage-Gated, Subfamily Q, Member 2 Gene - Potassium Voltage-Gated Channel Subfamily Q Member 2 wt Allele - Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 2 Gene

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