| umls-concept:C2698684 | skos:definition | NCI: 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. | lld:umls |
