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LIS1 Rabbit Polyclonal Antibody, 100ul Purification MIM 604682)-positive tissue counterparts (summary

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LIS1 Rabbit Polyclonal Antibody, 100ul Purification MIM 604682)-positive tissue counterparts (summaryThis 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

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Description

MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al

The product of this gene belongs to the beta subfamily of regulatory subunit B''

Beta subunits are important regulators of alpha subunits

Mutations in this gene are associated with ataxia telangiectasia| an autosomal recessive disorder

The gamma 3 chain is most similar to the gamma 1 chain

LIS1 Rabbit Polyclonal Antibody, 100ul Purification MIM 604682)-positive tissue counterparts (summaryThis 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

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