Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
TRPV4
Transient receptor potential cation channel, subfamily V, member 4




12q23-q24
* Scapuloperoneal spinal muscular atrophy - SPSMA (12.29, 12.30, 14.49)
* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.29, 12.30, 14.49)
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.29, 12.30, 14.49)