GENETIC ENCYCLOPEDIA
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gene: CASP7

id840
symbolCASP7
organismHomo sapiens
full namecaspase 7
summaryThis gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
variant-disease

GRCh37/hg19 10q25.3(chr10:115274398-115542099)x1 AND See cases

GRCh37/hg19 10q25.3(chr10:115343286-115502332)x3 AND not provided

GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1 AND See cases

GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1 AND See cases

GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 AND See cases

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