AAA Biotech, LLC's Anti-RNF113A Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunocytochemistry, Immunofluorescence, and Immunohistochemistry.
Description
Ring finger protein 113A (RNF113A) encodes a protein containing a C3H1-type zinc finger domain and a C3HC4 ring-type zinc finger domain. RNF113A is a highly conserved gene located on chromosome Xq24-q25. These two conserved zinc finger domains are involved in DNA alkylation repair and premessenger RNA splicing. RNF113A is thought to function as an E3 ligase, engaged in the regulation of the turnover and activity of many target proteins. One pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans. This variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes