Hai cercato: genome

Codice catalogo: (BOSSBS-3322R-A680)

Fornitore: Bioss

Codice articolo fornitore: BS-3322R-A680

Codice articolo locale: BOSSBS-3322R-A680

Descrizione: This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukaemia gene, results in chronic myeloproliferative disorder with eosinophilia.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-2443R-A555)

Fornitore: Bioss

Codice articolo fornitore: BS-2443R-A555

Codice articolo locale: BOSSBS-2443R-A555

Descrizione: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-12245R-FITC)

Fornitore: Bioss

Codice articolo fornitore: BS-12245R-FITC

Codice articolo locale: BOSSBS-12245R-FITC

Descrizione: The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-10265R-HRP)

Fornitore: Bioss

Codice articolo fornitore: BS-10265R-HRP

Codice articolo locale: BOSSBS-10265R-HRP

Descrizione: This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009].

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-3645R-A488)

Fornitore: Bioss

Codice articolo fornitore: BS-3645R-A488

Codice articolo locale: BOSSBS-3645R-A488

Descrizione: This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. At least four variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-8143R-CY5.5)

Fornitore: Bioss

Codice articolo fornitore: BS-8143R-CY5.5

Codice articolo locale: BOSSBS-8143R-CY5.5

Descrizione: The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion, and drug extrusion and delivery. CCDC93 (coiled-coil domain containing 93) is a 631 amino acid protein that belongs to the CCDC93 family. CCDC93 is encoded by a gene located on human chromosome 2, which makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare 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 related to mutations in the ALMS1 gene.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-8654R-CY5)

Fornitore: Bioss

Codice articolo fornitore: BS-8654R-CY5

Codice articolo locale: BOSSBS-8654R-CY5

Descrizione: Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene. The FAM81A gene product has been provisionally designated FAM81A pending further characterization.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-8143R-A555)

Fornitore: Bioss

Codice articolo fornitore: BS-8143R-A555

Codice articolo locale: BOSSBS-8143R-A555

Descrizione: The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion, and drug extrusion and delivery. CCDC93 (coiled-coil domain containing 93) is a 631 amino acid protein that belongs to the CCDC93 family. CCDC93 is encoded by a gene located on human chromosome 2, which makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare 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 related to mutations in the ALMS1 gene.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-9457R-A750)

Fornitore: Bioss

Codice articolo fornitore: BS-9457R-A750

Codice articolo locale: BOSSBS-9457R-A750

Descrizione: The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-6147R-CY3)

Fornitore: Bioss

Codice articolo fornitore: BS-6147R-CY3

Codice articolo locale: BOSSBS-6147R-CY3

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-6142R)

Fornitore: Bioss

Codice articolo fornitore: BS-6142R

Codice articolo locale: BOSSBS-6142R

Descrizione: This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-6165R-CY5.5)

Fornitore: Bioss

Codice articolo fornitore: BS-6165R-CY5.5

Codice articolo locale: BOSSBS-6165R-CY5.5

Descrizione: The KRAS gene encodes the human cellular homolog of a transforming gene isolated from the Kirsten rat sarcoma virus. The RAS proteins are GDP/GTP-binding proteins that act as intracellular signal transducers. The most well-studied members of the RAS (derived from 'RAt Sarcoma' virus) gene family include KRAS, HRAS, and NRAS. These genes encode immunologically related proteins with a molecular mass of 21 kD and are homologs of rodent sarcoma virus genes that have transforming abilities. While these wildtype cellular proteins in humans play a vital role in normal tissue signaling, including proliferation, differentiation, and senescence, mutated genes are potent oncogenes that play a role in many human cancers.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-4503R-A647)

Fornitore: Bioss

Codice articolo fornitore: BS-4503R-A647

Codice articolo locale: BOSSBS-4503R-A647

Descrizione: The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012]

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-6820R-HRP)

Fornitore: Bioss

Codice articolo fornitore: BS-6820R-HRP

Codice articolo locale: BOSSBS-6820R-HRP

Descrizione: MAGEA5 is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This MAGEA gene encodes a protein that is C-terminally truncated compared to other family members, and this gene can be alternatively interpreted to be a pseudogene.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-6820R-CY3)

Fornitore: Bioss

Codice articolo fornitore: BS-6820R-CY3

Codice articolo locale: BOSSBS-6820R-CY3

Descrizione: MAGEA5 is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This MAGEA gene encodes a protein that is C-terminally truncated compared to other family members, and this gene can be alternatively interpreted to be a pseudogene.

UOM: 1 * 100 µl

Promo

Codice catalogo: (BOSSBS-6822R-A750)

Fornitore: Bioss

Codice articolo fornitore: BS-6822R-A750

Codice articolo locale: BOSSBS-6822R-A750

Descrizione: This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localised in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21.

UOM: 1 * 100 µl

Promo