Disease-gene associations mined from literature

Literature associating PAFAH1B3 and Miller-Dieker lissencephaly syndrome

PAFAH1B3 [ENSP00000444935]

Platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa); Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain; Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily.

Synonyms:  PAFAH1B3,  A0A024R0L6,  M0QXS6,  M0QZT2,  M0R323 ...

Linkouts:  STRING  Pharos  UniProt