WH0005048M1

Monoclonal Anti-PAFAH1B1 antibody produced in mouse

clone 2C12, purified immunoglobulin, buffered aqueous solution

• Sinónimos: Anti-LIS1, Anti-MDCR, Anti-PAFAH, Anti-platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
• MDL number: MFCD01324139
• UNSPSC Code: 12352203
• NACRES: NA.43

Propiedades

• biological source: mouse
• Quality Level: 100
• conjugate: unconjugated
• antibody form: purified immunoglobulin
• antibody product type: primary antibodies
• clone: 2C12, monoclonal
• form: buffered aqueous solution
• species reactivity: human
• technique(s): indirect ELISA: suitable; western blot: 1-5 μg/mL
• isotype: IgG2aκ
• GenBank accession no.: NM_000430
• UniProt accession no.: P43034
• shipped in: dry ice
• storage temp.: −20°C
• target post-translational modification: unmodified
• Gene Information: human ... PAFAH1B1(5048)

Descripción

General description

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)

Immunogen

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

Biochem/physiol Actions

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.

Physical form

Solution in phosphate buffered saline, pH 7.4

Legal Information

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Información de seguridad

• Storage Class: 10 - Combustible liquids
• flash_point_f: Not applicable
• flash_point_c: Not applicable
• ppe: Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)