FUNCTION: Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a ...
FUNCTION: Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity). {ECO:0000250|UniProtKB:Q8BXK9, ECO:0000269|PubMed:15184393, ECO:0000269|PubMed:18028448, ECO:0000269|PubMed:20335315, ECO:0000269|PubMed:24781754}.
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GO - Biological processes (BP):
chloride transport [GO:0006821]; female pregnancy [GO:0007565]; glutathione metabolic process [GO:0006749]; regulation of ion transmembrane transport [GO:0034765]; response to stimulus [GO:0050896]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]...
chloride transport [GO:0006821]; female pregnancy [GO:0007565]; glutathione metabolic process [GO:0006749]; regulation of ion transmembrane transport [GO:0034765]; response to stimulus [GO:0050896]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]
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GO - Molecular function (MF):
chloride channel activity [GO:0005254]; voltage-gated ion channel activity [GO:0005244]...
chloride channel activity [GO:0005254]; voltage-gated ion channel activity [GO:0005244]
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GO - Cellular component (CC):
actin cytoskeleton [GO:0015629]; apical plasma membrane [GO:0016324]; cell cortex [GO:0005938]; chloride channel complex [GO:0034707]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; microtubule organizing center [GO:0005815]; stereocilium bundle [GO:0032421]...
actin cytoskeleton [GO:0015629]; apical plasma membrane [GO:0016324]; cell cortex [GO:0005938]; chloride channel complex [GO:0034707]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; microtubule organizing center [GO:0005815]; stereocilium bundle [GO:0032421]
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