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WH0005048M1

Sigma-Aldrich

Monoclonal Anti-PAFAH1B1 antibody produced in mouse

clone 2C12, purified immunoglobulin, buffered aqueous solution

Synonyme(s) :

Anti-LIS1, Anti-MDCR, Anti-PAFAH, Anti-platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa

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About This Item

Numéro MDL:
MFCD01324139
Code UNSPSC :
12352203
Nomenclature NACRES :
NA.43

Source biologique

mouse

Conjugué

unconjugated

Forme d'anticorps

purified immunoglobulin

Type de produit anticorps

primary antibodies

Clone

2C12, monoclonal

Forme

buffered aqueous solution

Espèces réactives

human

Technique(s)

indirect ELISA: suitable
western blot: 1-5 μg/mL

Isotype

IgG2aκ

Numéro d'accès GenBank

NM_000430

Numéro d'accès UniProt

P43034

Conditions d'expédition

dry ice

Température de stockage

−20°C

Modification post-traductionnelle de la cible

unmodified

Informations sur le gène

human ... PAFAH1B1(5048)

Description générale

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. (provided by RefSeq)

Immunogène

PAFAH1B1 (NP_000421, 1 a.a. ~ 110 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSP

Actions biochimiques/physiologiques

PAFAH1B1 (Platelet activating factor acetyl hydrolase 1b regulatory subunit 1) majorly participates in the neuronal migration pathway during brain development. It is a non-catalytic regulatory subunit of platelet activating factor (PAF) acetyl hydrolase 1b (Pafah1b) complex. During neuronal migration, it conjugates with PAFAH1B2 and PAFAH1B3 to control the concentration of platelet activating factor in the brain. Deleted gene expression of PAFAH1B1 has been reported in the 7p13.3 deletion syndrome or Miller-Dieker syndrome with mental retardation and facial dysmorphism. Heterozygous mutations of the gene cause type 1 lissencephaly characterized with impaired neuronal migration and reduction in the number of cortical gyri.

Forme physique

Solution in phosphate buffered saline, pH 7.4

Informations légales

GenBank is a registered trademark of United States Department of Health and Human Services

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Code de la classe de stockage

10 - Combustible liquids

Point d'éclair (°F)

Not applicable

Point d'éclair (°C)

Not applicable

Équipement de protection individuelle

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)

Certificats d'analyse (COA)

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Consulter la Bibliothèque de documents

Manuel Schiff et al.
European journal of medical genetics, 53(5), 303-308 (2010-07-06)
The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to
Carlos Cardoso et al.
Human mutation, 19(1), 4-15 (2001-12-26)
Classical lissencephaly (LIS) and subcortical band heterotopia (SBH) are related cortical malformations secondary to abnormal migration of neurons during early brain development. Approximately 60% of patients with classical LIS, and one patient with atypical SBH have been found to have
Amir H Assadi et al.
Neuroscience letters, 439(1), 100-105 (2008-06-03)
Reelin, an extracellular protein that signals through the Dab1 adapter protein, and Lis1 regulate neuronal migration and cellular layer formation in the brain. Loss of Reelin and reduction in Lis1 activity in mice or humans results in the disorganization of

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