TRPV4 Polyclonal Antibody

disease:Defects in TRPV4 are the cause of brachyolmia type 3 [MIM:113500]; also called brachyrachia. The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Type 3 brachyolmia is an autosomal dominant form with severe kyphoscoliosis and flattened, irregular cervical vertebrae.,function:Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism.,similarity:Belongs to the transient receptor family. TrpV subfamily.,similarity:Contains 3 ANK repeats.,subcellular location:Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum.,subunit:Homotetramer (Probable). Self-associates in a isoform-specific manner. Isoforms 1/A and 5/D but not isoform 2/B, 4/C and 6/E can oligomerize. Interacts with calmodulin. Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES.,