Disease-gene associations mined from literature

Literature associating CASP10 and familial hypertrophic cardiomyopathy

CASP10 [ENSP00000286186]

FAS-associated death domain protein interleukin-1B-converting enzyme 2; Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates caspase- 3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC; Belongs to the peptidase C14A family.

Synonyms:  CASP10,  CASP10p,  hCASP10,  B4E3T5,  CASP10-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM