ACOT6 Rabbit Polyclonal Antibody, 20ul Immuno Plates Mutations in this gene have

Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease

Mutations in this gene are associated with sensory/motor neuropathy with ataxia

causing dissociation of MAPs from microtubules and increased microtubule dynamics

This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries

ACOT6 Rabbit Polyclonal Antibody, 20ul Immuno Plates Mutations in this gene have