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Codice catalogo: (BOSSBS-8151R-A488)
Fornitore: Bioss
Codice articolo fornitore: BS-8151R-A488
Codice articolo locale: BOSSBS-8151R-A488
Descrizione: FAM36A is a multi-pass membrane protein. It belongs to the FAM36 family. The exact function of FAM36A remains unknown.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 FAM36A gene product has been provisionally designated FAM36A pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-3999R)
Fornitore: Bioss
Codice articolo fornitore: BS-3999R
Codice articolo locale: BOSSBS-3999R
Descrizione: Summary: This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L2 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Several alternatively spliced variants of this gene have been reported. [provided by RefSeq, Jul 2008].
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-3999R-HRP)
Fornitore: Bioss
Codice articolo fornitore: BS-3999R-HRP
Codice articolo locale: BOSSBS-3999R-HRP
Descrizione: Summary: This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L2 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Several alternatively spliced variants of this gene have been reported. [provided by RefSeq, Jul 2008].
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-4140R)
Fornitore: Bioss
Codice articolo fornitore: BS-4140R
Codice articolo locale: BOSSBS-4140R
Descrizione: This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-4501R-A488)
Fornitore: Bioss
Codice articolo fornitore: BS-4501R-A488
Codice articolo locale: BOSSBS-4501R-A488
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


Codice catalogo: (BOSSBS-9021R-FITC)
Fornitore: Bioss
Codice articolo fornitore: BS-9021R-FITC
Codice articolo locale: BOSSBS-9021R-FITC
Descrizione: IQCJ (IQ domain-containing protein J) is a 159 amino acid protein that contains one IQ domain. Existing as four alternatively spliced isoforms, the gene encoding IQCJ maps to human chromosome 3q25.32. Chromosome 3 houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9021R-A647)
Fornitore: Bioss
Codice articolo fornitore: BS-9021R-A647
Codice articolo locale: BOSSBS-9021R-A647
Descrizione: IQCJ (IQ domain-containing protein J) is a 159 amino acid protein that contains one IQ domain. Existing as four alternatively spliced isoforms, the gene encoding IQCJ maps to human chromosome 3q25.32. Chromosome 3 houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-13180R-A555)
Fornitore: Bioss
Codice articolo fornitore: BS-13180R-A555
Codice articolo locale: BOSSBS-13180R-A555
Descrizione: Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The FLJ11184 gene product has been provisionally designated FLJ11184 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9531R)
Fornitore: Bioss
Codice articolo fornitore: BS-9531R
Codice articolo locale: BOSSBS-9531R
Descrizione: Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf10 gene product has been provisionally designated C6orf10 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9535R)
Fornitore: Bioss
Codice articolo fornitore: BS-9535R
Codice articolo locale: BOSSBS-9535R
Descrizione: Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf134 gene product has been provisionally designated C6orf134 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15234R)
Fornitore: Bioss
Codice articolo fornitore: BS-15234R
Codice articolo locale: BOSSBS-15234R
Descrizione: Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf195 gene product has been provisionally designated C6orf195 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15218R)
Fornitore: Bioss
Codice articolo fornitore: BS-15218R
Codice articolo locale: BOSSBS-15218R
Descrizione: Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf132 gene product has been provisionally designated C6orf132 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15227R)
Fornitore: Bioss
Codice articolo fornitore: BS-15227R
Codice articolo locale: BOSSBS-15227R
Descrizione: Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf163 gene product has been provisionally designated C6orf163 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-5008R)
Fornitore: Bioss
Codice articolo fornitore: BS-5008R
Codice articolo locale: BOSSBS-5008R
Descrizione: Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15250R)
Fornitore: Bioss
Codice articolo fornitore: BS-15250R
Codice articolo locale: BOSSBS-15250R
Descrizione: Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf58 gene product has been provisionally designated C6orf58 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15253R)
Fornitore: Bioss
Codice articolo fornitore: BS-15253R
Codice articolo locale: BOSSBS-15253R
Descrizione: Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf72 gene product has been provisionally designated C6orf72 pending further characterization.
UOM: 1 * 100 µl


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