Disease-gene associations mined from literature

Literature associating HTRA2 and essential tremor

HTRA2 [ENSP00000258080]

High temperature requirement protein A2; Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive; Belongs to the peptidase S1C family.

Synonyms:  HTRA2,  HTRA2p,  hHTRA2,  O43464,  O43464p ...

Linkouts:  STRING  Pharos  UniProt  OMIM