Ontology highlight
ABSTRACT:
SUBMITTER: Li L
PROVIDER: S-EPMC6133373 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
PLoS genetics 20180829 8
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN ...[more]