NALCN wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NALCN wild-type allele is located within 13q32.3-q33.1 and is approximately 363 kb in length. This allele, which encodes sodium leak channel NALCN protein, plays a role in the regulation of respiratory rhythm and systemic osmoregulation. Mutations in the gene are associated with congenital contractures of the limbs and face, hypotonia, and developmental delay and infantile hypotonia, with psychomotor retardation and characteristic facies 1 (CLIFAHDD).

**Synonyms:** - CLIFAHDD - CanIon - Four Repeat Voltage-Gated Ion Channel Gene - IHPRF - IHPRF1 - INNFD - Sodium Leak Channel, Non-Selective wt Allele - Sodium Leak Channel, Nonselective Gene - VGCNL1 - Voltage Gated Channel Like 1 Gene - bA430M15.1