Synthetic peptide directed towards the N terminal of human ARPC4
Biochem/physiol Actions
Arpc4 functions as actin-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. Seems to contact the mother actin filament.
Sequence
Synthetic peptide located within the following region: AVRATLQAALCLENFSSQVVERHNKPEVEVRSSKELLLQPVTISRNEKEK
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, and dysmorphisms. This defect compromises multiple cell lineages
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