FAM38A Antibody – Rabbit Polyclonal

The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]

PIEZO1: Component of mechanosensitive channel required for the mechanosensitive currents. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling. Belongs to the PIEZO family.

Protein type: Membrane protein, multi-pass; Endoplasmic reticulum; Membrane protein, integral

Chromosomal Location of Human Ortholog: 16q24.3

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; ER-Golgi intermediate compartment membrane; integral to membrane; plasma membrane

Molecular Function: cation channel activity; mechanically-gated ion channel activity

Biological Process: cation transport; positive regulation of cell-cell adhesion mediated by integrin; positive regulation of integrin activation

Disease: Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/or Perinatal Edema