Primary Identifier | MGI:3603204 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 234839 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity and mechanosensitive monoatomic cation channel activity. Involved in monoatomic cation transport and positive regulation of myotube differentiation. Acts upstream of or within detection of mechanical stimulus and regulation of membrane potential. Located in cuticular plate; plasma membrane; and stereocilium. Is expressed in several structures, including brain; cardiovascular system; hemolymphoid system; liver; and lung. Human ortholog(s) of this gene implicated in dehydrated hereditary stomatocytosis 1 and hereditary lymphedema. Orthologous to human PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)). PHENOTYPE: Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. [provided by MGI curators] |