DISEASES

Disease-gene associations mined from literature

Literature associating SPPL2C and Koolen de Vries syndrome

SPPL2C [ENSP00000332488]

Signal peptide peptidase like 2C; Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptides in the hydrophobic plane of the membrane.

Synonyms:  SPPL2C,  SPPL2Cp,  hSPPL2C,  Q8IUH8,  IMP5 ...

Linkouts:  STRING  Pharos  UniProt