基因名:
Henmt1
产品别名:
4921515J06Rik; Hen1; mHEN1; Henmt1; HEN1 methyltransferase homolog 1 (Arabidopsis); HEN1 methyltransferase homolog 1 (Arabidopsis); small RNA 2'-O-methyltransferase; HEN1甲基转移酶同源蛋白1;
背景信息:
C1orf59 is a 393 amino acid protein that belongs to the UPF0486 family. C1orf59 is considered a complete proteome and maps to chromosome 1p13.3. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.