DISEASES

Disease-gene associations mined from literature

Literature on PGAP6

PGAP6 [ENSP00000401338]

Post-GPI attachment to proteins factor 6; Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells . Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1-enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane . In contrast to myomaker (TMEM8C), has no fusogenic activity .

Synonyms:  PGAP6,  PGAP6p,  hPGAP6,  C9J8D7,  H0Y5B2 ...

Linkouts:  STRING  Pharos  UniProt