CASP14 Gene

The CASP14 gene (CASP14 stands for Caspase-14) is a protein-coding gene located on chromosome 19p13.12.

Diseases associated with CASP14 include:

• Autosomal recessive congenital ichthyosis (OMIM: 617320) ACRI12 (Kirchmeier P et al. 2017)

The CASP14 gene encodes a member of the cysteine-aspartic acid protease family (caspase-14). The sequential activation of caspases plays a central role in the execution phase of cell apoptosis. Caspases are present as inactive proenzymes that are proteolytically processed on conserved aspartic acid residues to form two subunits, one large and one small, which dimerize to form the active enzyme.

Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by upstream adaptor molecules and interact with them.

Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by upstream adaptor molecules and interact with them.

In larger studies, associations between leukemia risk in childhood could be established for 5 genes: CASP7, CASP14, CASP8AP2, MYC and RIPK1 (Park C et al. 2012).

1. Kirchmeier P et al (2017) Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis. Acta Derm Venereol 97:102-104.
2. Park C et al (2012) Association between CASP7 and CASP14 genetic polymorphisms and the risk of childhood leukemia. Hum Immunol 73:736-739.
3. Richard G (2001) Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [updated 2017 May 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.