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

FASTKD3 encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain

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

which heterodimerizes with type I keratins to form hair and nails

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.