DISEASES

Disease-gene associations mined from literature

Literature associating PIGK and iridogoniodysgenesis syndrome

PIGK [ENSP00000359848]

GPI-anchor transamidase; Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein; Belongs to the peptidase C13 family.

Synonyms:  PIGK,  A6NEM5,  B1AK81,  Q92643,  S4R3M5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM