What is the TRPV4 gene?

What is the TRPV4 gene?

TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) is a Protein Coding gene. Diseases associated with TRPV4 include Spondylometaphyseal Dysplasia, Kozlowski Type and Scapuloperoneal Spinal Muscular Atrophy. Among its related pathways are CREB Pathway and TRP channels.

Where is TRPV4 found?

In the respiratory tract, TRPV4 protein is expressed in the epithelia of the trachea and lung, submucosal glands, and mononuclear cells [14]. Furthermore, protein was also detected in sympathetic ganglia and in sympathetic and parasympathetic nerve fibers in a number of tissues [14].

What is the TRP4?

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.

Who discovered TRPV4?

The TRPV4 gene has been co-discovered by W. Liedtke et al. and R. Strotmann et al.

What do TRP channels do?

TRP/TRPL channels are solely responsible for depolarization of insect photoreceptor plasma membrane in response to light. When these channels open, they allow sodium and calcium to enter the cell down the concentration gradient, which depolarizes the membrane.

What is Metatropic dysplasia?

What is metatropic dysplasia? The term metatropic comes from a Greek word meaning “changing form.” Patients with metatropic dysplasia have an abnormality in their growth plates. The result is the wide portion of a long bone (the metaphyses) is knobby in appearance and the spine has a flattening of the vertebral bodies.

Are TRP channels ligand gated?

Mammalian TRP channels are activated and regulated by a wide variety of stimuli including many post-transcriptional mechanisms like phosphorylation, G-protein receptor coupling, ligand-gating, and ubiquitination. Most TRP channels form homo- or heterotetramers when completely functional.

What causes Metatropic dysplasia?

Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel . The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells.

What is Metatropic?

The term metatropic comes from a Greek word meaning “changing form.” Patients with metatropic dysplasia have an abnormality in their growth plates. The result is the wide portion of a long bone (the metaphyses) is knobby in appearance and the spine has a flattening of the vertebral bodies.

Is TRP a protein?

Mammalian TRP channels are activated and regulated by a wide variety of stimuli and are expressed throughout the body….Transient receptor potential channel.

Transient receptor potential (TRP) ion channel
Identifiers
InterPro IPR013555
OPM superfamily 8
OPM protein 3j5p