Tag: Miller-Dieker syndrome
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PAFAH1B1
Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in humans is encoded by the PAFAH1B1gene.[5][6][7] The protein is often referred to as Lis1 and plays an important role in regulating the motor protein Dynein.[8] Function PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller–Dieker syndrome. PAFAH1B1 encodes the non-catalytic alpha subunit of the…
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