p47-phox(Phospho Ser370) Polyclonal Antibody, 20ul Cryogenic Vials Mutations in TUBA1A cause lissencephaly

Mutations in TUBA1A cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly

The protein encoded by this intronless gene is found in the nucleus| where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis

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a region associated with Cornelia de Lange syndrome

p47-phox(Phospho Ser370) Polyclonal Antibody, 20ul Cryogenic Vials Mutations in TUBA1A cause lissencephalyThe protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease.