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

disease:Defects in COL5A1 are a cause of Ehlers-Danlos syndrome type 1 (EDS1)

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

a protein with melanoma growth stimulating activity

Induces thymocyte apoptosis when overexpressed

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.