Disease-gene associations mined from literature

Literature associating CASP14 and type 1 diabetes mellitus 17

CASP14 [ENSP00000393417]

Caspase 14, apoptosis-related cysteine peptidase; 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. 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; Belongs to the peptidase C14A family.

Synonyms:  CASP14,  CASP14p,  hCASP14,  B2CIS9,  CASP14-001 ...

Linkouts:  STRING  Pharos  UniProt