exod1 antibody, EXOD1 antibody, Exod1 antibody, 4933424N09Rik antibody, mKIAA1504 antibody, eri2 antibody, ERI1 exoribonuclease family member 2 L homeolog antibody, ERI1 exoribonuclease family member 2 antibody, exoribonuclease 2 antibody, eri2.L antibody, ERI2 antibody, Eri2 antibody, eri2 antibody
背景
EXOD1 (Exonuclease domain-containing protein 1), also known as ERI2 (ERI1 exoribonuclease 2), is a 691 amino acid protein that contains one exonuclease domain, which catalyzes the hydrolysis of unpaired or mismatched nucleotides. EXOD1 acitivity is dependent on the binding of two magnesium ions per subunit. There are four isoforms of EXOD1 that are produced as a result of alternative splicing events. The gene encoding EXOD1 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3 % of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.Synonyms: Exonuclease domain-containing protein 1, KIAA1504, MGC16943