U2A07

U2A07 is a variant of the human U2 small nucleolar RNA (snoRNA) gene, located on chromosome 14. SnoRNAs are a class of non-coding RNAs that guide the site-specific 2'-O-methylation of ribosomal RNA and other RNA substrates. The U2A07 gene produces a small RNA molecule that is essential for the proper functioning of the spliceosome, a molecular machine that removes introns from pre-mRNA during the process of splicing. Mutations in the U2A07 gene have been associated with several genetic disorders, including Diamond-Blackfan anemia, a rare blood disorder characterized by low red blood cell counts, and 47,XXY syndrome, a form of Klinefelter syndrome where individuals have an extra X chromosome. The U2A07 gene is highly conserved across species, indicating its critical role in RNA metabolism and cellular function. The U2A07 gene is transcribed by RNA polymerase III and is processed by specific enzymes to produce the mature snoRNA. The mature U2A07 snoRNA forms a complex with specific proteins to guide the methylation of the 2'-OH group of uridine 15 in 18S rRNA, a key step in ribosome biogenesis. The U2A07 gene is expressed in a wide range of tissues, including the liver, kidney, and brain, reflecting its ubiquitous role in cellular RNA metabolism.