精神发育迟滞相关蛋白抗体
规格：1mg/1ml
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：Polyclonal
亚型：IgG
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品介绍：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品应用：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