CLIC4 Chromosome 1

Chloride intracellular channel 4
1 variant 1 Health Risk

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What This Gene Does
Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Chloride intracellular channels
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000169504
Associated Conditions (1)
Short stature
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1557810606 Health Risk Likely pathogenic Short stature, Short stature
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