GENETIC ENCYCLOPEDIA
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gene: CASP5

id838
symbolCASP5
organismHomo sapiens
full namecaspase 5
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. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
variant-disease

GRCh37/hg19 11q22.3(chr11:104874006-104916026)x1 AND See cases

GRCh37/hg19 11q22.3(chr11:104036858-105294945)x3 AND not provided

GRCh38/hg38 11q22.3(chr11:104510196-105323725)x1 AND See cases

GRCh37/hg19 11q22.3(chr11:104032613-105293148)x3 AND not provided

GRCh38/hg38 11q22.3(chr11:104192271-105418437)x3 AND See cases

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