Disease-gene associations mined from literature

Literature on PITRM1

PITRM1 [ENSP00000370377]

Presequence protease, mitochondrial; ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference; Belongs to the peptidase M16 family. PreP subfamily.

Synonyms:  PITRM1,  PITRM1p,  hPITRM1,  B1APQ0,  B1APQ1 ...

Linkouts:  STRING  Pharos  UniProt