CASP14 Chromosome 19
Caspase 14
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What This Gene Does
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. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Caspases
Locus Type
gene with protein product
Location
19p13.12
Ensembl
ENSG00000105141
Associated Conditions (3)
Ichthyosis
congenital
autosomal recessive 12
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769277893 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis, congenital, autosomal recessive 12 |