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Catalogus nummer: (BOSSBS-11356R-A680)
Leverancier: Bioss
Omschrijving: The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-7094R-A750)
Leverancier: Bioss
Omschrijving: This gene is specifically expressed in the thymus, and encodes a protein that is localised to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-8103R)
Leverancier: Bioss
Omschrijving: CCDC104 is a 342 amino acid protein that exists as two alternatively spliced isoforms. CCDC104 undergoes post-translational phosphorylation following DNA damage, most likely by either ATR or ATM. The gene encoding CCDC104 maps to human chromosome 2, the second largest human chromosome, which 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, Alstr syndrome is due to mutations in the ALMS1 gene.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-11614R-CY7)
Leverancier: Bioss
Omschrijving: This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-0538R-CY3)
Leverancier: Bioss
Omschrijving: This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010].
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-15526R-A680)
Leverancier: Bioss
Omschrijving: This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-15526R-A488)
Leverancier: Bioss
Omschrijving: This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-6248R-A680)
Leverancier: Bioss
Omschrijving: This gene encodes a member of the inositol monophosphatase family. The encoded protein is localised to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-6248R-CY3)
Leverancier: Bioss
Omschrijving: This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-6007R-CY5)
Leverancier: Bioss
Omschrijving: This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in three transcript variants encoding different isoforms.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-2365R-A680)
Leverancier: Bioss
Omschrijving: This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localised to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-3991R-A750)
Leverancier: Bioss
Omschrijving: This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-15561R-A750)
Leverancier: Bioss
Omschrijving: IFT20 is a gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components. This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-3798R-CY7)
Leverancier: Bioss
Omschrijving: Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors.
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-5937R-A350)
Leverancier: Bioss
Omschrijving: This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011].
UOM: 1 * 100 µl


Catalogus nummer: (BOSSBS-8128R-A647)
Leverancier: Bioss
Omschrijving: This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, adevelopmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008].
UOM: 1 * 100 µl


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