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Rabbit Anti-RLLM1/FITC Conjugated antibody
background:
CGI-99 is a 244 amino acid protein that localizes to the nucleus, as well as to the cytoplasm, and belongs to the UPF0568 family. Expressed in a variety of tissues with particularly high levels in heart and skeletal muscle, CGI-99 functions as a homodimer that interacts with Ninein and is thought to regulate Ninein function. CGI-99 is overexpressed in brain tumor tissue, suggesting a role in tumor development and metastasis. The gene encoding CGI-99 maps to human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.
Function:
The function of the C14orf266 gene has not yet been determined, but it is
widely expressed, at high levels in heart and skeletal muscle and at intermediate levels in liver, pancreas, foetal brain and foetal lung. It is weakly expressed in adult brain, adult lung, placenta, foetal liver and foetal kidney, and overexpressed in many brain tumors.Cellular localization;Nucleus. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. centrosome.May localize at the centrosome during mitosis.
Subunit:
Homodimer (Probable). Interacts with NIN; which may prevent phosphorylation of NIN. Interacts with POLR2A. Component of a tRNA-splicing ligase complex. Interacts with influenza A virus RNA polymerase subunits PA, PB1 and PB2, and nucleocapsid NP. Interacts with hepatitis C virus core protein p19.
Subcellular Location:
Nucleus. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, centrosome. Note=May localize at the centrosome during mitosis.
Tissue Specificity:
Widely expressed. Expressed at high level in heart and skeletal muscle. Expressed at intermediate level in liver, pancreas, fetal brain and fetal lung. Weakly expressed in adult brain, adult lung, placenta, fetal liver and fetal kidney. Overexpressed in many brain tumors.
Similarity:
Belongs to the UPF0568 family.
Database links:
Entrez Gene: 51637 Human
Entrez Gene: 13645 Mouse
Omim: 610858 Human
SwissProt: Q9Y224 Human
SwissProt: Q9CQE8 Mouse
Unigene: 534457 Human
Unigene: 21932 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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