LIS1

ArtNr	18-272-197144
Hersteller	GENWAY
Menge	0.05 mg
Kategorie	Neuroscience Metabolism Cholesterol & Lipid Metabolism Molecular Targets for Neuroscience Antibodies Immunoprecipitation Western Blot Enzymes Fatty Acid Catabolism Primary Antibodies
Typ	Antibody
Applikationen	WB, IP
Specific against	other
ECLASS 10.1	32160702
ECLASS 11.0	32160702
UNSPSC	12352203
Alias	GWB-3B6519
Similar products	18-272-197144
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Genway ID:	GWB-3B6519
Isotype:	IgG
Immunogen:	Synthetic peptide (Human) - which represents a portion of human Lissencephaly 1 (Lis 1) protein encoded inpart by exons 3 and 4.
Antigen Species:	Human
Positive Control:	TF-1 (erythroleukemia cell line) cell lysate
Target:	LIS1
Concentration:	1 mg/ml
Purification Note:	Affinity purified using the immunising peptideimmobilized on solid support. Storage
Buffer:	Tris-citrate/phosphate pH 7-8 0. 1% sodium azide
Application Note:	IP: Use at a concentration of 2 - 10 µ l. WB: Use at a dilution of 1/300 - 1/3000. Not tested in other applications. Optimal dilutions/concentrations should be determined by the end user. 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 (1). 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) (2). 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 (3).
Function:	Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing.
Subunit:	Component of cytosolic PAF-AH IB which is composed of PAFAH1B1 (alpha) PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Trimer formation is not essential for the catalytic activity of the enzyme which is contributed solely by the PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Interacts with IQGAP1 KATNB1 and NUDC. Interacts with DAB1 when DAB1 is phosphorylated in response to RELN/reelin signaling (By similarity). Can self-associate. Interacts with DCX dynein dynactin NDE1 NDEL1 and RSN. Interacts with DISC1 and this interaction is enhanced by NDEL1.
Subcellular Location:	Cytoplasm cytoskeleton. Spindle (By similarity). Nucleus membrane (Potential). Centrosome. Note=Redistributes to axons during neuronal development. Also localizes to the microtubules of the manchette in elongating spermatids and to the meiotic spindle in spermatocytes (By similarity). Localizes to the plus end of microtubules and to the centrosome. May localize to the nuclear membrane.
Tissue Specificity:	Fairly ubiquitous expression in both the frontal and occipital areas of the brain.
Domain:	Dimerization mediated by the LisH domain may be required to activate dynein (By similarity).
Disease:	Defects in PAFAH1B1 are the cause of lissencephaly type 1 (LIS1) [MIM:607432]; also known as classic lissencephaly. LIS1 is characterized by agyria or pachgyria and disorganization of the clear neuronal lamination of normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. LIS1 is associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum.
Disease:	Defects in PAFAH1B1 are the cause of subcortical band heterotopia (SBH) [MIM:607432]. SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface.
Disease:	Defects in PAFAH1B1 are a cause of Miller-Dieker lissencephaly syndrome (MDLS) [MIM:247200]. MDLS is a contiguous gene deletion syndrome of chromosome 17p13. 3 characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition.
Similarity:	Belongs to the WD repeat LIS1/nudF family.
Similarity:	Contains 1 LisH domain.
Similarity:	Contains 7 WD repeats.

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