TRPV4 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TRPV4 wild-type allele is located in the vicinity of 12q24.11 and is approximately 50 kb in length. This allele, which encodes transient receptor potential cation channel subfamily V member 4 protein, is involved in calcium transport and osmotic pressure regulation. Mutation of the gene is associated with various osmotic, skeletal and neuromuscular disorders.

**Synonyms:** - BCYM3 - CMT2C - HMSN2C - OTRPC4 - SMAL - SPSMA - SSQTL1 - TRP12 - Transient Receptor Potential Cation Channel Subfamily V Member 4 wt Allele - Transient Receptor Potential Cation Channel, Subfamily V, Member 4 Gene - Transient Receptor Potential, Drosophila, Homolog of, 12 Gene - VRL2 - VROAC