General description
PAFAH1B1 (Platelet activating factor acetyl hydrolase 1b regulatory subunit 1) encodes a protein referred to as Lis1. It is located on the chromosome location 17p13.3. The gene spans ~92 kb at the genomic level. It consists of a N-terminal coiled-coil domain and seven WD40 repeats at the C-terminus end.
Immunogen
Peptide with sequence TGSVDQTVKVWECR from the C Terminus of the protein sequence according to NP_000421.
Application
Anti-LIS1/PAFAH1B1 antibody produced in goat is suitable for indirect ELISA and western blot applications.
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.
Features and Benefits
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Physical form
Supplied at 0.5 mg/mL in Tris saline with 0.02% sodium azide and 0.5% bovine serum albumin.
| biological source | goat |
| Quality Level | 100 |
| conjugate | unconjugated |
| antibody form | affinity isolated antibody |
| antibody product type | primary antibodies |
| clone | polyclonal |
| form | buffered aqueous solution |
| species reactivity | human, canine, mouse, rat |
| technique(s) | indirect ELISA: suitable,western blot: suitable |
| UniProt accession no. | P43034 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... PAFAH1B1(5048) |
