RN213 Rabbit Polyclonal Antibody, 50ul Nucleic Acid Amplification 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

They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents

This protein interacts directly with SMN

Mutations in this gene are associated with type 1 pachyonychia congenita

It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix

RN213 Rabbit Polyclonal Antibody, 50ul Nucleic Acid Amplification Constitutive activation of this geneThis gene encodes a protein containing a C3HC4 type RING finger domain which is a specialized type of Zn finger that binds two atoms of zinc and is thought to be involved in mediating protein protein interactions. The protein also contains an AAA domain which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic