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Ace+Method+Development+Kits
Numéro de catalogue:
(BOSSBS-2700R-A488)
Fournisseur:
Bioss
Description:
Cytokeratin 10 is a heterotetramer of two type I and two type II keratins. Cytokeratin 10 is generally associated with keratin 1. It is seen in all suprabasal cell layers including stratum corneum. A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Defects in cytokeratin 10 are a cause of epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (BCIE) or bullous erythroderma ichthyosiformis congenita of Brocq. EHK is an hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. At birth, affected individuals usually present with redness, blisters and superficial erosions due to cytolysis. Within a few weeks, the erythroderma and blister formation diminish and hyperkeratoses develop. Transmission is autosomal dominant, but most cases are sporadic. Defects in cytokeratin 10 are also a cause of annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11081R-FITC)
Fournisseur:
Bioss
Description:
The cadherins represent a family of Ca2+-dependent adhesion molecules that function to mediate cell to cell binding that is critical for the maintenance of structure and morphogenesis. Cadherins each contain a large extracellular domain at the N-terminus, which is characterized by a series of five homologous repeats, the most distal of which is thought to be responsible for binding specificity. The relatively short C-terminal intracellular domain interacts with a variety of cytoplasmic proteins, including ∫-catenin, to regulate cadherin function. The cadherin superfamily includes cadherins, protocadherins, desmogleins and desmocollins. FAT3 (FAT tumor suppressor homolog 3, also known as CDHF15 or CDHR10, is a 4,589 amino acid single-pass type I membrane protein expressed in ES cells, primitive neuroectoderm, fetal brain, infant brain, adult neural tissues and prostate. Containing thirty-three cadherin domains, four EGF-like domains and one laminin G-like domain, FAT3 may participate in the interactions between neurites derived from specific subsets of neurons during development.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13609R-A555)
Fournisseur:
Bioss
Description:
Spermatogenesis is the process by which male spermatogonia develop into mature spermatozoa. DAZ (deleted in azoospermia) are RNA-binding proteins that play an essential role in spermatogenesis. DAZ proteins influence the first stages of spermatogenesis and the maintenance of germ cell populations. DAZ proteins (DAZ1, DAZ2, DAZ3, DAZ4 and DAZ5) are encoded by separate genes on chromosome Y, each of which contain an AZFc domain in their coding region. DAZ proteins localize to the nucleus of spermatogonia, but relocate to the cytoplasm during meiosis. DAZ proteins contain an RRM (RNA recognition motif) domain that may regulate mRNA translation by binding to the 3’UTR. Deletions in the genes encoding DAZ proteins may cause azoospermia or oligospermia which can lead to male infertility. DAZ4 (deleted in azoospermia 4), also known as pDP1680 or pDP1681, is a 579 amino acid testis specific protein that contains nine DAZ-like domains and two RNA recognition motifs (RRM). DAZ4 exists as two alternatively spliced isoforms.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12311R-A350)
Fournisseur:
Bioss
Description:
The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. The primary function of these motifs is to provide a versatile structural framework to mediate the formation of protein-protein interactions. LRRs are present in a variety of proteins with diverse structure and function, including innate immunity and nervous system development. Several human diseases are associated with mutations in genes encoding LRR-containing proteins. LRRC23 (leucine-rich repeat-containing protein 23), also known as leucine-rich protein B7, is a 343 amino acid protein that contains eight LRR (leucine-rich) repeasts and one LRRCT domain. LRRC23 exists as two alternatively spliced isoforms and is encoded by a gene mapping to chromosome 12.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11091R-A680)
Fournisseur:
Bioss
Description:
LSAMP is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system expressed on the surface of somata and proximal dendrites of neurons. It is a member of the immunoglobulin (Ig) superfamily and belongs to the IgLON subfamily of cell adhesion molecules. LSAMP contains three Ig domains and a glycosylphosphatidylinositol anchor. It is a highly conserved protein between rodents and humans (99% sequence identity) and it is involved in the regulation of neurite outgrowth and mediation of proper circuit formation of limbic pathways. This suggests that LSAMP plays an important role in the development and function of the limbic system. In addition, LSAMP may function as a tumour suppressor in renal carcinomas.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9526R)
Fournisseur:
Bioss
Description:
Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation (By similarity).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11967R-CY3)
Fournisseur:
Bioss
Description:
SRPX2 is a 465 amino acid secreted protein expressed in neurons of the brain, including the rolandic area. It has been suggested that SRPX2 enhances cell motility, migration and adhesion through FAK signaling in gastric and other cancer cells. Localized to the cytoplasm, SRPX2 is a ligand for uPAR (urokinase plasminogen activator), a receptor that is a crucial component of the extracellular plasminogen proteolysis system. SRPX2 may be responsible for rolandic seizures (RSs) associated with oral and speech dyspraxia and mental retardation (MR). The involvement of SRPX2 in these disorders suggests an important role for SRPX2 in the perisylvian region critical for language and cognitive development.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11107R-A750)
Fournisseur:
Bioss
Description:
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5114R-A750)
Fournisseur:
Bioss
Description:
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7907R-A488)
Fournisseur:
Bioss
Description:
CDC-like kinase 2 (CLK2) belongs to a family of autophosphorylating kinases termed CLK (CDC2/CDC28-like kinases), which have been shown to phosphorylate serine- and arginine-rich (SR) proteins of the spliceosomal complex, and to influence alternative splicing in overexpression systems. Recent findings demonstrated that the CLK kinases activate PTP-1B family members, and this phosphatase may be an important cellular target for CLK action. Mutations in the CLK2 proteins affect organismal features such as development, behavior, reproduction, and aging as well as cellular features such as the cell cycle, apoptosis, the DNA replication checkpoint, and telomere length.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11091R-CY3)
Fournisseur:
Bioss
Description:
LSAMP is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system expressed on the surface of somata and proximal dendrites of neurons. It is a member of the immunoglobulin (Ig) superfamily and belongs to the IgLON subfamily of cell adhesion molecules. LSAMP contains three Ig domains and a glycosylphosphatidylinositol anchor. It is a highly conserved protein between rodents and humans (99% sequence identity) and it is involved in the regulation of neurite outgrowth and mediation of proper circuit formation of limbic pathways. This suggests that LSAMP plays an important role in the development and function of the limbic system. In addition, LSAMP may function as a tumor suppressor in renal carcinomas.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3255R-CY5.5)
Fournisseur:
Bioss
Description:
This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants, encoding the same protein, have been described. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6147R-CY3)
Fournisseur:
Bioss
Description:
This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-10498R-CY3)
Fournisseur:
Bioss
Description:
The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8309R-CY5.5)
Fournisseur:
Bioss
Description:
ANKRD54 is a 300 amino acid protein that contains four ankyrin repeats and is expressed as two alternatively spliced isoforms. The gene encoding human ANKRD54 maps to chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia chromosome and the subsequent production of the novel fusion protein BCR-Abl, a potent cell proliferation activator found in several types of leukemias.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15317R-CY7)
Fournisseur:
Bioss
Description:
C9orf163 (chromosome 9 open reading frame 163) is a 203 amino acid protein encoded by a gene that maps to human chromosome 9q34.3. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:
1 * 100 µl
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