Disease-gene associations mined from literature

Literature associating ATP6AP2 and congenital disorder of glycosylation type IIe

ATP6AP2 [ENSP00000367697]

Vacuolar ATP synthase membrane sector-associated protein M8-9; Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS).

Synonyms:  ATP6AP2,  ATP6AP2p,  hATP6AP2,  B7Z413,  H7C240 ...

Linkouts:  STRING  Pharos  UniProt  OMIM