GENETIC ENCYCLOPEDIA
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gene: CAMLG

id819
symbolCAMLG
organismHomo sapiens
full namecalcium modulating ligand
summaryThe immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]
variant-disease

GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1 AND See cases

GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1 AND See cases

GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1 AND See cases

GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1 AND not provided

GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1 AND See cases

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