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lissencephaly-1 (LIS-1, PAF acetylhydrolase gamma subunit gene, PAFAH gene)
17p13.3
Pathology:
- abberant gene in lissencephaly type 1 (Miller-Dieker lissencephaly)
Related
Miller-Dieker lissencephaly syndrome
platelet-activating factor acetylhydrolase IB subunit alpha; PAF acetylhydrolase 45 kD subunit; PAF-AH 45 kD subunit; PAF-AH alpha; PAFAH alpha; Lissencephaly-1 protein; LIS-1 (PAFAH1B1, LIS1, MDCR, MDS, PAFAHA)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: platelet-activating factor acetylhydrolase IB subunit alpha
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM correlations
MORBIDMAP 601545
Entrez Gene 5048
References
- Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K.
Miller-Dieker lissencephaly gene encodes a subunit of brain
platelet-activating factor acetylhydrolase [corrected]
Nature. 1994 Jul 21;370(6486):216-8.
Erratum in: Nature 1994 Aug 4;370(6488):391.
PMID: 8028668