SARDH Rabbit Polyclonal Antibody, 20ul Polyclonal Antibody Preparation Increased expression of this gene

Increased expression of this gene has been correlated with malignant progression of prostate tumors

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

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

This complex plays an essential role in mitotic chromosome assembly

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

SARDH Rabbit Polyclonal Antibody, 20ul Polyclonal Antibody Preparation Increased expression 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.