PAFAH1B1 wt Allele

Preferred Label : PAFAH1B1 wt Allele;

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

NCIt 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.;

GenBank Accession Number : L25107;

Details

Origin ID

C75886;

UMLS CUI

C2698684;

False automatic mappings
- Myelodysplastic syndrome [OMIM Phenotype]
OMIM relation
- Platelet-activating factor acetylhydrolase, isoform 1b, alpha subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.3 [NCIt concept]
gene_is_element_in_pathway
- LIS1 Pathway [NCIt concept]
gene_plays_role_in_process
- Cellular Migration Process [NCIt concept]

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