RPUSD2 Polyclonal Antibody, APC Conjugated

RPUSD2, is a 545 amino acid member of the pseudouridine synthase rluA family and is encoded by a gene that is located on chromosome 15. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

C15orf19; C18B11; C18B11 homolog; RNA pseudouridylate synthase domain containing 2; RNA pseudouridylate synthase domain containing protein 2; RNA pseudouridylate synthase domain-containing protein 2; RPUSD 2; RPUSD-2; RUSD2_HUMAN.