PAFAH1B1

Also known as LIS1, LIS2, MDCR, MDS, PAFAH, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), NudF, platelet activating factor acetylhydrolase 1b regulatory subunit 1

Platelet-activating factor acetylhydrolase IB subunit alpha or Lisencephaly protein-1 (LIS-1) is an enzyme that in humans is encoded by the PAFAH1B1 gene. The protein plays an important role in regulating the motor protein dynein.

Gene data

PAFAH1B1

Name: platelet activating factor acetylhydrolase 1b regulatory subunit 1
Type: protein-coding
Position: 2,593,183–2,685,627 (+)
Aliases: LIS1, LIS2, MDCR, MDS, NudF, PAFAH
Ensembl: ENSG00000007168
RefSeq RNA: NM_000430.4, XM_011523901.3, XM_011523902.4, XM_011523903.3, XM_017024701.2
RefSeq protein: NP_000421.1, XP_011522203.1, XP_011522204.1, XP_011522205.1, XP_016880190.1

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009].