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Catalog Number: (10482-680)

Supplier: Bioss

Description: Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which 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. 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. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

Catalog Number: (10482-674)

Supplier: Bioss

Description: Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which 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. 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. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

Catalog Number: (10482-676)

Supplier: Bioss

Description: Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which 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. 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. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

Catalog Number: (10482-716)

Supplier: Bioss

Description: The leucine-rich repeat-containing protein 2 (LRRC2) is a 371 amino acid protein that contains 9 LRR repeats. The gene encoding LRRC2 maps to chromosome 3, which encodes over 1,100 genes. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

Catalog Number: (10482-742)

Supplier: Bioss

Description: UBE2H, also known as UBC8, UBCH, UBCH2 or E2-20K, is a 183 amino acid protein involved in ubiquitin-mediated protein degradation. Ubiquitination is an important mechanism through which three classes of enzymes act in concert to target short-lived or abnormal proteins for destruction. The three classes of enzymes involved in ubiquitination are the ubiquitin-activating enzymes (E1s), the ubiquitin-conjugating enzymes (E2s) and the ubiquitin-protein ligases (E3s). One of several members of the ubiquitin-conjugating enzyme family, UBE2H functions as an E2 ubiquitin-conjugating enzyme that acts to catalyze the covalent attachment of ubiquitin residues to various proteins, including Histone H2A. UBE2H shares 100% identity with its mouse counterpart and 98% identity with its frog and zebrafish homologs, suggesting a conserved function between species. Multiple isoforms of UBE2H exist due to alternative splicing events.

Catalog Number: (10482-722)

Supplier: Bioss

Description: LRRC59 (leucine rich repeat containing 59), also known as PRO1855, is a 307 amino acid protein that contains leucine-rich repeats and may play a role in protein binding events throughout the cell. The gene encoding LRRC59 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes.

Catalog Number: (10485-322)

Supplier: Bioss

Description: FBXO36 is a 188 amino acid protein that contains one forty amino acid F-box region, making it a member of the F-box family. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein) type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. F-box proteins are members of a large family that regulates cell cycle, immune response, signaling cascades and developmental programs by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, IkB-å and ∫-catenin, for degradation by the proteasome after ubiquitination. Functioning as a component of the SCF complex, FBXO36 is thought to recognize and bind to select phosphorylated proteins, thereby promoting their ubiquitination and subsequent degradation.

Catalog Number: (10485-350)

Supplier: Bioss

Description: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal center B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signaling, cell migration and the timing of the cell-cycle progression and exit. Binds to and neddylates phosphorylated p53/TP53, inhibiting its transcriptional activity. SCF(FBXO11) does not seem to direct ubiquitination of p53/TP53.

Catalog Number: (10485-318)

Supplier: Bioss

Description: FBXO36 is a 188 amino acid protein that contains one forty amino acid F-box region, making it a member of the F-box family. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein) type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. F-box proteins are members of a large family that regulates cell cycle, immune response, signaling cascades and developmental programs by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, IkB-å and ∫-catenin, for degradation by the proteasome after ubiquitination. Functioning as a component of the SCF complex, FBXO36 is thought to recognize and bind to select phosphorylated proteins, thereby promoting their ubiquitination and subsequent degradation.

Catalog Number: (10479-266)

Supplier: Bioss

Description: Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The FAM91A1 gene product has been provisionally designated FAM91A1 pending further characterization.

Catalog Number: (10479-282)

Supplier: Bioss

Description: FAM84B, also known as NSE2 or BCMP101, is a 310 amino acid protein that is expressed in esophageal squamous cell carcinomas, suggesting a role in tumor development and metastasis. The gene encoding FAM84B maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8.

Catalog Number: (10479-288)

Supplier: Bioss

Description: FAM84B, also known as NSE2 or BCMP101, is a 310 amino acid protein that is expressed in esophageal squamous cell carcinomas, suggesting a role in tumor development and metastasis. The gene encoding FAM84B maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8.

Catalog Number: (10450-034)

Supplier: Bioss

Description: PSA, prostate specific antigen, is the classic indicator for transformed pro-state tissue; however, in addition to being upregulated in prostate cancer, PSA is also upregulated in non-malignant conditions, such as benign prostatic hyperplasia. Prostein, also designated Prostate cancer-associated protein 6, is a prostate-specific, 553 amino acid transmembrane protein that is upregulated by androgens. It is considered a marker for prostate cells since it is expressed in all prostatic glandular cells as well as in normal and cancerous prostate tissues. Since it is able to elicit a tumor-directed cytotoxic T cell response, Prostein may be used as a target for the development of PSA- and T cell-based therapeutic strategies for prostate cancer.

Catalog Number: (10278-596)

Supplier: Bioss

Description: Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell development through T-cell antigen receptor (TCR) signaling and in particular through the regulation of calcium influx and phosphorylation of Erk (By similarity).

Catalog Number: (10278-618)

Supplier: Bioss

Description: Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Catalog Number: (10278-622)

Supplier: Bioss

Description: Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).