TRPV4

Synonym(s): OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C

Locus: 12q24.1

Protein: Transient receptor potential cation channel subfamily V member 4

Disorder(s):

• Charcot-Marie-Tooth Neuropathy Type 2
• Brachyolmia Type 3
• Spondylometaphyseal Dysplasia, Kozlowski Type
• Scapuloperoneal Spinal Muscular Atrophy
• Distal Congenital Nonprogressive Spinal Muscular Atrophy
• Brachyolmia Type 2
• Metatropic Dysplasia
• Charcot-Marie-Tooth Neuropathy Type 2C