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Description:
E3 ubiquitin-protein ligase that plays a role in the control of mitochondrial morphology. Promotes mitochondrial fragmentation and influences mitochondrial localization. Inhibits cell growth. When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugatin.
Description:
The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in protein-protein interactions and protein-DNA interactions. Specifically, they are thought to be involved in the ubiquitination pathway of protein degradation. RNF165 (RING finger protein 165) is a 346 amino acid protein that contains one RING-type zinc finger. Via its RING-type zinc finger, RNF165 may play a role in transcriptional regulation and protein degradation events. The gene encoding RNF165 maps to human chromosome 18, which houses over 300 genes, including Trisomy 18, or Edwards syndrome, the second most common trisomy after Downs syndrome. Translocation between chromosome 18 and 14 is the most common translocation in cancers, and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are also associated with chromosome 18.
Description:
This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Description:
WDR79 contains six WD (tryptophan-aspartate) repeat domains found in a number of proteins that function as adaptor molecules in signal transduction and cytoskeletal organization. The WD repeat is defined by four or more repeating units of a conserved core of approximately 40 amino acids ending with tryptophan-aspartic acid (WD). WD repeats may serve as sites of protein-protein interaction for adaptor proteins and facilitate multiprotein complex formation. The function of the WDR79 protein has not been characterized, however significant and consistent single nucleotide polymorphisms in the WDR79 gene have been found to be associated with ER negative breast cancer.
Description:
Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor-suppressor activity.
Description:
ABI2 (Abelson interactor 2) belongs to the ABI family. The Abelson interactors are among a group of proteins that interact with Abl tyrosine kinase, a non-receptor tyrosine kinase whose activation results in the regulation of cytoskeleton function, cell growth and apoptosis in response to a variety of biological stimuli.
Description:
AARE (Acylamino-acid-releasing enzyme) is also known as Acyl-peptide hydrolase. It catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus corresponding to the protein are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma.
Description:
FBXO31 belongs to the F-box protein family. Such proteins are characterized by an F-box motif of approximately 40 residues. F-box proteins interact with SKP1 through the F box and they interact with ubiquitination targets through other protein interaction domains. There are two different isoforms.
Description:
SSX8 belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas.
Description:
p107 is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene.
Description:
The FAH family contains two highly homologous 314 amino acid proteins, designated FAHD2A (fumarylacetoacetate hydrolase domain-containing protein 2A) and FAHD2B (fumarylacetoacetate hydrolase domain-containing protein 2A). FAHD2A and B utilize calcium and magnesium as cofactors, and may possess hydrolase activity. The genes encoding FAHD2A/B map to human chromosome 2, the second largest human chromosome, which consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstré°‰ syndrome, is also associated with mutations to chromosome 2.
Description:
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. The FAM102B gene product has been provisionally designated FAM102B pending further characterization.
UOM:
1 * 100 µl
Promotion
,BOSSBS-8230REA
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