LIS1 Products

Description

Lissencephaly (LIS), literally meaning smooth brain, has multiple causes. Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology. With this technical advantage, a number of lissencephaly syndromes have been distinguished. Classic lissencephaly (type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria / pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. Lissencephaly is found in association with facial abnormalities in Miller-Dieker syndrome and without other major anomalies in X-linked lissencephaly and isolated lissencephaly sequence (ILS). Subcortical band heterotopia (SBH) are bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface and comprise the less severe end of the lissencephaly spectrum of malformations.

Bioinformatics

Entrez	18472 Mouse 5048 Human 83572 Rat
Uniprot	AAH64638.1 Human NP_000421 Human P43034 Human
Product By Gene ID	5048
Alternate Names	LIS-1 LIS1PAF-AH alpha LIS2 lissencephaly 1 protein Lissencephaly-1 protein MDCR MDS Miller-Dieker syndrome chromosome region PAF acetylhydrolase 45 kDa subunit PAF-AH 45 kDa subunit PAFAH alpha PAFAH PAFAHA platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) platelet-activating factor acetylhydrolase IB subunit alpha platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD) platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)

Research Areas for LIS1

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Cell Cycle and Replication