精神发育迟滞相关蛋白抗体
规格：1尘驳/1尘濒
英文名： FTSJ1
别名： CDLIV; FTSJ 1; FtsJ homolog 1 (E. coli); FtsJ homolog 1; JM23; Mental retardation X linked 44; Mental retardation X linked 9; MRX44; MRX9; Putative ribosomal RNA methyltransferase 1; RRMJ1; SPB1; TRM7
分子量： 36kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from Human FTSJ1
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：
精神发育迟滞相关蛋白抗体产物介绍：background: FTSJ1 is a 329 amino acid nucleolar protein belonging to the RlmE family and methyltransferase superfamily. Expressed in 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). Function: FTSJ1 is a member of the S-adenosylmethionine-binding protein family精神发育迟滞相关蛋白抗体. It is a nucleolar protein and may be involved in the processing and modification of rRNA. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. Tissue Specificity: Found in fetal brain, lung, liver and kidney. In the brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus. DISEASE: Defects in FTSJ1 are the cause 精神发育迟滞相关蛋白抗体of mental retardation X-linked type 44 (MRX44) [MIM:309549]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. Similarity: Belongs to the methyltransferase superfamily. RlmE family. Gene ID: 24140 Database links: Entrez Gene: 24140 Human Entrez Gene: 54632 Mouse Entrez Gene: 363450 Rat Omim: 300499 Human SwissProt: Q9UET6 Human Unigene: 23170 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
精神发育迟滞相关蛋白抗体产物应用：ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：发育生物学 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid