基因名：
DIMT1
产品别名：
DIM1； DIMT1L； HSA9761； HUSSY5； DIMT1； DIM1 rRNA methyltransferase and ribosome maturation factor； DIM1 rRNA methyltransferase and ribosome maturation factor； probable dimethyladenosine transferase； 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase； 18S rRNA dimethylase； DIM1 dimethyladenosine transferase 1 homolog； DIM1 dimethyladenosine transferase 1-like； DIMT1 rRNA methyltransferase and ribosome maturation factor； S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase； dimethyladenosine transferase； probable 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase； probable 18S rRNA dimethylase； probable S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase； DIMT1L蛋白；
背景信息：
DIMT1 is a 313 amino acid protein that belongs to the rRNA adenine N(6)-methyltransferase family. Localized to the nucleolus, DIMT1 functions to dimethylate adjacent adenosines on the conserved hairpin loop of 18S rRNA in the 40S particle. The gene encoding DIMT1 maps to chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5-associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
