RN213 Rabbit Polyclonal Antibody, 100ul PCR Series This gene contains an upstream

This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression

indicating a potential role for this protein in DNA repair

A number of alternatively spliced variants encoding distinct isoforms have been described

Mutations in this gene are associated with Crouzon syndrome

RN213 Rabbit Polyclonal Antibody, 100ul PCR Series This gene contains an upstreamThis 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