半岛bd体育手机客户端 介绍
基因名:
FTSJ1 半岛bd体育手机客户端 别名: CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7; XLID9; FTSJ1; FtsJ RNA 2'-O-methyltransferase 1; FtsJ RNA 2'-O-methyltransferase 1; putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; 2'-O-ribose RNA methyltransferase TRM7 homolog; FtsJ RNA methyltransferase homolog 1; FtsJ-like protein 1; cell division protein; putative ribosomal RNA methyltransferase 1; rRNA (uridine-2'-O-)-methyltransferase; tRNA methyltransferase 7 homolog; 精神发育迟滞相关蛋白; 背景信息:
FTSJ1 is a 329 amino acid nucleolar protein belonging to the RlmE family and methyltransferase superfamily. Expressed in adult thalamus, hippocampus, amygdala, corpus callosum and caudate nucleus, as well as fetal kidney, lung, liver, brain and lung, FTSJ1 plays a role in rRNA modification and processing. FTSJ1 exists as multiple spliced isoforms which are encoded by a gene located on human chromosome Xp11.23. Notably, defects in the gene encoding FTSJ1 are the cause of mental retardation X-linked type 44 (MRX44) and nonsyndromic X-linked mental retardation (MRX9).
标签:His-tag |
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