PAFAH1B1 wt Allele
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PAFAH1B1 wt Allele 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.
PAFAH1B1 wt Allele Synonyms
PAFAH1B1 wt Allele, 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
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