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Bioss
Numéro de catalogue:
(BOSSBS-12165R-A680)
Fournisseur:
Bioss
Description:
Chromosome 3 is made up of about 214 million bases encoding over 1100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumour suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. 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. The FAM62C gene product has been provisionally designated FAM62C pending further characterisation.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9635R-CY7)
Fournisseur:
Bioss
Description:
Zinc is an essential cofactor that is involved in cell growth and development, as well as in protein, nucleic acid and lipid metabolism. The transport of zinc across the cell membrane is crucial for correct enzyme and overall cell function. SLC39A11 (solute carrier family 39 (metal ion transporter), member 11), also known as ZIP11 (Zrt- and Irt-like protein 11), is a 342 amino acid multi-pass membrane protein belonging to the ZIP transporter family. Expressed as multiple alternatively spliced isoforms, SLC39A11 acts as a zinc-influx transporter and is encoded by a gene located on human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes, some of which are involved in tumor suppression and in the pathogenesis of Li-Fraumeni syndrome, early onset breast cancer and a predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12322R-A488)
Fournisseur:
Bioss
Description:
Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11640R-A647)
Fournisseur:
Bioss
Description:
Anterior pharynx defective 1 (Aph-1) is a polytopic, seven-pass membrane protein that functions as one of the four essential components in the presenilin-Gamma-secretase enzyme complex. This enzyme complex is necessary for the intra-membrane proteolysis of several different membrane proteins, including the beta-Amyloid precursor protein, and is involved in multiple neurodevelopmental signaling pathways. Aph-1b and Aph-1a are splice variants of Aph-1. Aph-1b specifically lacks exon 4, which encodes for the entire fourth transmembrane domain, causing the protein to be destabilized. Deficiency of Aph-1a causes a reduction in Gamma-secretase activity, however deficiency of Aph-1b does not; thus, Aph-1b may execute redundant functions in the cell. Aph-1b expression and Gamma-secretase activity may be implicated in neurodevelopmental disorders, such as schizophrenia.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4112R-A750)
Fournisseur:
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.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11693R-CY3)
Fournisseur:
Bioss
Description:
Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8114R-A647)
Fournisseur:
Bioss
Description:
CCDC138, also known as FLJ32745, is a 685 amino acid protein expressed as two isoforms produced by alternative splicing. The gene that encodes CCDC138 maps to human chromosome 2q12.3. The second largest human chromosome, chromosome 2 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8114R-CY3)
Fournisseur:
Bioss
Description:
CCDC138, also known as FLJ32745, is a 685 amino acid protein expressed as two isoforms produced by alternative splicing. The gene that encodes CCDC138 maps to human chromosome 2q12.3. The second largest human chromosome, chromosome 2 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8114R-CY5.5)
Fournisseur:
Bioss
Description:
CCDC138, also known as FLJ32745, is a 685 amino acid protein expressed as two isoforms produced by alternative splicing. The gene that encodes CCDC138 maps to human chromosome 2q12.3. The second largest human chromosome, chromosome 2 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8114R-CY7)
Fournisseur:
Bioss
Description:
CCDC138, also known as FLJ32745, is a 685 amino acid protein expressed as two isoforms produced by alternative splicing. The gene that encodes CCDC138 maps to human chromosome 2q12.3. The second largest human chromosome, chromosome 2 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1297R-A555)
Fournisseur:
Bioss
Description:
Involved in T-cell activation, the induction of cell proliferation and cytokine production and promotion of T-cell survival.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0222R-FITC)
Fournisseur:
Bioss
Description:
NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0051R-FITC)
Fournisseur:
Bioss
Description:
Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6710R-A680)
Fournisseur:
Bioss
Description:
NGL-1 is a single pass type I membrane protein that acts as a cell adhesion molecule. It contains nine leucine-rich repeats (LRR) and one Ig-like C2-type domain. NGL-1 is predominantly expressed in the striatum and the cerebral cortex of both the embryonic and adult brain. NGL-1 specifically interacts with Netrin G1 (a molecule involved in axon guidance in the developing central nervous system) via its LRR region. NGL-1 plays a role in the regulation of neurite outgrowth of developing thalamic neurons. Soluble NGL-1 inhibits thalamic axon outgrowth while NGL-1 that is bound to the surface of developing thalamocortical axons stimulates growth. NGL-1 also interacts with Whirlin possibly stablising interstereociliar links.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9611R-CY5.5)
Fournisseur:
Bioss
Description:
CLLD6, is a 196 amino acid protein that contains one B30.2/SPRY domain. Expression of CLLD6 is found at highest levels in heart, skeletal muscle and testis, with lower levels found in thymus, peripheral blood leukocytes, lymph node and bone marrow. Existing as two alternatively spliced isoforms, CLLD6 maps to human chromosome 13, which comprises nearly 4% of human DNA and contains about 114 million base pairs and 400 genes. Key tumor suppressor genes on chromosome 13 include the breast cancer susceptibility gene, BRCA2, and the RB1 (retinoblastoma) gene. RB1 encodes a crucial tumor suppressor protein which, when defective, leads to malignant growth in the retina and has been implicated in a variety of other cancers. The gene SLITRK1, which is associated with Tourette syndrome, is on chromosome 13. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15293R-HRP)
Fournisseur:
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 C8orf45 gene product has been provisionally designated C8orf45 pending further characterisation.
UOM:
1 * 100 µl
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