ACCN4
Encyclopedia
Amiloride-sensitive cation channel 4 also known as amiloride-sensitive cation channel 4, neuronal (ACCN4) or amiloride-sensitive cation channel 4, pituitary or acid-sensing ion channel 4 (ASIC4) is a membrane protein
that in human
s is encoded by the ACCN4 gene
. The ASIC4 protein is a member of the acid-sensing ion channel
family that is expressed in the pituitary gland
and other parts of the brain. ASIC4 may have lost its ion transport function but play a regulatory role through interactions with other members of the family or other proteins.
s, which are proton-gated, amiloride
-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis
(PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC.
Membrane protein
A membrane protein is a protein molecule that is attached to, or associated with the membrane of a cell or an organelle. More than half of all proteins interact with membranes.-Function:...
that in human
Human
Humans are the only living species in the Homo genus...
s is encoded by the ACCN4 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. The ASIC4 protein is a member of the acid-sensing ion channel
Acid-sensing ion channel
Acid-sensing ion channels are neuronal voltage-insensitive cationic channels activated by extracellular protons. ASIC proteins are a subfamily of the ENaC/Deg superfamily of proteins. To date six proteins of the ASIC family have been identified that arise from four genes, ASIC1, ASIC2, ASIC3, and...
family that is expressed in the pituitary gland
Pituitary gland
In vertebrate anatomy the pituitary gland, or hypophysis, is an endocrine gland about the size of a pea and weighing 0.5 g , in humans. It is a protrusion off the bottom of the hypothalamus at the base of the brain, and rests in a small, bony cavity covered by a dural fold...
and other parts of the brain. ASIC4 may have lost its ion transport function but play a regulatory role through interactions with other members of the family or other proteins.
Function
This gene belongs to the superfamily of acid-sensing ion channelAcid-sensing ion channel
Acid-sensing ion channels are neuronal voltage-insensitive cationic channels activated by extracellular protons. ASIC proteins are a subfamily of the ENaC/Deg superfamily of proteins. To date six proteins of the ASIC family have been identified that arise from four genes, ASIC1, ASIC2, ASIC3, and...
s, which are proton-gated, amiloride
Amiloride
Amiloride is a potassium-sparing diuretic, first approved for use in 1967 , used in the management of hypertension and congestive heart failure. Amiloride was also tested as treatment of cystic fibrosis, but it was revealed inefficient in vivo due to it's short time of action, therefore...
-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis
Paroxysmal Nonkinesigenic Dyskinesia
Paroxysmal Nonkinesigenic Dyskinesia is an episodic movement disorder first described by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis"...
(PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC.