Gene: CASP7
Alternate names for this Gene: CASP-7|CMH-1|ICE-LAP3|LICE2|MCH3
Gene Summary: This 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.
Gene is located in Chromosome: 10
Location in Chromosome : 10q25.3
Description of this Gene: caspase 7
Type of Gene: protein-coding
rs12771452 in
CASP7 gene and
Vitiligo
PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.
PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.