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TRPV4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TRPV4 gene

The TRPV4 gene encodes a calcium channel involved in bone development, water balance, and sensation, with mutations leading to a spectrum of skeletal and neurological disorders.

Normal Function

The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. This channel, which transports positively charged atoms of calcium (calcium ions) across cell membranes, is found in many types of cells and tissues. Studies suggest that the TRPV4 channel plays a role in a number of different functions in the body, including the development of bones and cartilage. It is also involved in maintaining the body's water balance (osmoregulation) and in certain types of sensation, particularly the sensation of pain. The TRPV4 channel may also play a role in the self-destruction of cells (apoptosis).

Health Conditions Related to Genetic Changes

Metatropic dysplasia

At least 30 mutations in the TRPV4 gene have been identified in people with metatropic dysplasia, a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. Most of these mutations change single protein building blocks (amino acids) in the TRPV4 calcium channel. Studies suggest that the TRPV4 gene mutations that cause metatropic dysplasia overactivate the TRPV4 calcium channel. The resulting increase in calcium in cartilage-forming cells (chondrocytes) may disrupt the early development of cartilage and bone.

Other disorders

Mutations in the TRPV4 gene cause a variety of other conditions, most of which affect the developing skeleton or the nervous system:

  • Skeletal disorders: These include autosomal dominant brachyolmia; spondylometaphyseal dysplasia, Kozlowski type; spondyloepiphyseal dysplasia, Maroteaux type; and parastremmatic dysplasia. These conditions involve combinations of short stature, abnormal curvature of the spine (kyphoscoliosis), and other bone development problems.
  • Neurological disorders: This spectrum includes Charcot-Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy (weakness of muscles in the legs and hips), and scapuloperoneal spinal muscular atrophy (weakness and wasting of muscles in the shoulders and lower legs).
  • Familial digital arthropathy-brachydactyly: This condition is characterized by arthritis in the joints of the fingers and toes and shortened fingers and toes. Unlike the overactive channel mutations, these mutations appear to impair the function of the TRPV4 calcium channel.

Because mutations in the TRPV4 gene are associated with such a wide array of conditions, some researchers have proposed referring to all TRPV4-related disorders as TRPV4-associated peripheral neuropathy and bony dysplasias (TRPV4-PNAB) or TRPV4-opathies.

Other Names for This Gene

  • osm-9-like TRP channel 4
  • OSM9-like transient receptor potential channel 4
  • osmosensitive transient receptor potential channel 4
  • OTRPC4
  • SPSMA
  • SSQTL1
  • transient receptor potential cation channel, subfamily V, member 4
  • transient receptor potential protein 12
  • TRP12
  • TRPV4_HUMAN
  • vanilloid receptor-like channel 2
  • vanilloid receptor-related osmotically activated channel
  • VR-OAC
  • VRL-2
  • VRL2
  • VROAC

Frequently Asked Questions

Skeletal symptoms often include short stature (dwarfism), abnormal spinal curvature (kyphoscoliosis), joint stiffness, and bone deformities. Neurological symptoms can vary but may include muscle weakness, sensory issues, and problems with nerve function, depending on the specific disorder.
Many TRPV4-related disorders, such as metatropic dysplasia, are inherited in an autosomal dominant pattern. This means an affected individual has a 50% chance of passing the mutation to each child. Genetic counseling can provide detailed information about inheritance patterns and reproductive risks for specific TRPV4-related conditions.
Diagnosis usually begins with a physical examination and imaging studies like X-rays to assess skeletal abnormalities. Further evaluation may include MRI for neurological involvement. Genetic testing to identify specific mutations in the TRPV4 gene is crucial for confirming the diagnosis.
Treatment is supportive and aims to manage specific symptoms. This can include orthopedic interventions for skeletal deformities, physical therapy to improve mobility and muscle strength, pain management, and sometimes respiratory support if lung function is affected by spinal curvature. Regular monitoring by specialists is essential.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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