CASR Polyclonal Antibody, 50ul[BT-AP14684] Peptide Synthesis Mutations in this gene cause

Mutations in this gene cause coenzyme Q10 deficiency| a mitochondrial encephalomyopathy| and also COQ2 nephropathy| an inherited form of mitochondriopathy with primary renal involvement

It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity

Following vascular injury

and regulates development of the embryonic pancreas

This gene is unique among the cytochrome P450 genes in that it is intronless

CASR Polyclonal Antibody, 50ul[BT-AP14684] Peptide Synthesis Mutations in this gene causeThe protein encoded by this gene is a G protein coupled receptor that is expressed in the parathyroid hormone (PTH) producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion