半岛bd体育手机客户端 介绍
基因名:
METTL13 半岛bd体育手机客户端 别名: 5630401D24Rik; CGI-01; DFNB26; DFNB26M; DFNM1; EEF1AKNMT; KIAA0859; feat; METTL13; methyltransferase 13, eEF1A lysine and N-terminal methyltransferase; methyltransferase 13, eEF1A lysine and N-terminal methyltransferase; eEF1A lysine and N-terminal methyltransferase; antiapoptotic protein FEAT; deafness (autosomal recessive, nonsyndromic) modifier 1; deafness (recessive, non-syndromic) modifier 1; deafness (recessive, nonsyndromic) modifier 1; eEF1A-KNMT; faint expression in normal tissues, aberrant overexpression in tumors; methyltransferase like 13; methyltransferase-like protein 13; KIAA0859蛋白; 背景信息:
METTL13 is a 699 amino acid protein that exists as five alternatively spliced isoforms that are encoded by a gene that maps to human chromosome 1. 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.
标签:His-tag |
相关半岛bd体育手机客户端
|