PAFAH1B1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PAFAH1B1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 92 kb in length. This allele, which encodes platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit protein, plays a role in the regulation of neuronal migration. Mutations in the gene are associated with lissencephaly type 1, subcortical band heterotopia, and Miller-Dieker lissencephaly syndrome.

**Synonyms:** - LIS1 - LIS2 - MDCR - MDS - Miller-Dieker Syndrome Chromosome Region Gene - PAFAH - Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Alpha Subunit (45kD) Gene - Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Alpha Subunit 45kDa wt Allele