DISEASES

Disease-gene associations mined from literature

Literature associating CASP14 and vulva squamous cell carcinoma

CASP14 [ENSP00000393417]

Caspase-14 subunit p20, intermediate form; Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum . Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substrate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF (PubMed:16854378, PubMed:19960512). Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrier function . Involved in DNA degradation in differentiated keratinocytes probably by cleaving DFFA/ICAD leading to liberation of DFFB/CAD . ECO:0000269|PubMed:15556625, ECO:0000269|PubMed:16854378, ECO:0000269|PubMed:19960512, ECO:0000269|PubMed:22825846,; Belongs to the peptidase C14A family.

Synonyms:  CASP14,  CASP14p,  hCASP14,  B2CIS9,  P31944 ...

Linkouts:  STRING  Pharos  UniProt