BHE40 Rabbit Polyclonal Antibody, 20ul Centrifugal Filter Mutations in this gene were

Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1

This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex

Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa

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BHE40 Rabbit Polyclonal Antibody, 20ul Centrifugal Filter Mutations in this gene wereThis gene encodes a basic helix loop helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E box binding sites in the promoter of PER1 and repress CLOCK ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation.