SARDH Rabbit Polyclonal Antibody, 20ul Polyclonal Antibody Preparation Constitutive activation of this gene

Constitutive activation of this gene caused either by somatic mutations| or genomic duplications of regions that include this gene| have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome

Alternatively spliced transcript variants encoding different isoforms have been described for GFRA4

Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies

RABGEF1 forms a complex with rabaptin-5 (RABPT5

SARDH Rabbit Polyclonal Antibody, 20ul Polyclonal Antibody Preparation Constitutive activation of this geneThis gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme dimethylglycine dehydrogenase which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described.