Gene: CASP3

Alternate names for this Gene: CPP32|CPP32B|SCA-1

Gene Summary: The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is processed by caspases 8, 9, and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.1

Description of this Gene: caspase 3

Type of Gene: protein-coding

Gene: PRIMPOL

Alternate names for this Gene: CCDC111|MYP22|Primpol1

Gene Summary: This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.1

Description of this Gene: primase and DNA directed polymerase

Type of Gene: protein-coding