TRPV4 : transient receptor potential cation channel subfamily V member 4
Description
The TRPV4 (transient receptor potential cation channel subfamily V member 4) is a protein-coding gene located on chromosome 12.
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. These include the development of bones and cartilage, the tough but flexible tissue that makes up much of the skeleton during early development. It is also be 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). It likely has additional functions that have not been identified.
The TRPV4 protein is a non-selective calcium permeant cation channel that is involved in osmotic sensitivity and mechanosensitivity. It is activated by exposure to hypotonicity within the physiological range, and this activation exhibits an outward rectification. TRPV4 can also be activated by heat, low pH, citrate, and phorbol esters. The channel activity is regulated by a calmodulin-dependent mechanism with a negative feedback mechanism.
TRPV4 is also known as BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC.
Associated Diseases
- Neuronopathy, distal hereditary motor, type VIII
- Familial avascular necrosis of femoral head
- Scapuloperoneal spinal muscular atrophy
- Spondyloepiphyseal dysplasia, Maroteaux type
- Spondylometaphyseal dysplasia, Kozlowski type
- Autosomal dominant brachyolmia
- Metatropic dysplasia
- Hereditary motor and sensory neuropathy, type IIC
- Familial digital arthropathy-brachydactyly
- Avascular necrosis of femoral head, primary, 2
- Brachyolmia type 3
- Digital arthropathy-brachydactyly, familial
- Parastremmatic dwarfism
- Autosomal dominant congenital benign spinal muscular atrophy
- Charcot-Marie-Tooth disease
