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Description: The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq].

Catalog Number: BOSSBS-4219R-A350

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Description: The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene.

Catalog Number: BOSSBS-4219R-A750

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Description: The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq].

Catalog Number: BOSSBS-4219R-CY5.5

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Description: 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 localized 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. [provided by RefSeq, Jul 2008].

Catalog Number: BOSSBS-6822R-CY7

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Description: 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 localized 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. [provided by RefSeq, Jul 2008].

Catalog Number: BOSSBS-6822R-CY5.5

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Description: 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 localized 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. [provided by RefSeq, Jul 2008].

Catalog Number: BOSSBS-6822R-CY3

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Description: 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.

Catalog Number: BOSSBS-3645R-A750

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Description: This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Catalog Number: BOSSBS-20473R-A680

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Description: The RBM (RNA-binding motif) gene family encodes proteins with an RNA binding motif. RBMY (RBM, Y chromosome) encodes a germ-cell specific nuclear protein involved in spermatogenesis. The RBM gene family, including RBMY1A, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1H and RBMY1J, is comprised of at least 30 genes and pseudogenes, found on both arms of the Y chromosome. RBM X, an ancestral X chromosome homolog of the RBMY gene, encodes hnRNP G, which is widely expressed, whereas the RBMY gene evolved a male-specific function in spermatogenesis. Micro-deletions of the AZFb region of the Y chromosome, which contains a number of RBMY genes, usually result in severe consequences for spermatogenesis. RBM expression is localized to the nuclei of germ cells and RBM interacts with Tra2beta. Tra2beta is a ubiquitous activator of pre-mRNA splicing, but is most highly expressed in testis, suggesting a role for RBM in Tra2beta-dependent splicing in spermatocytes. The human RBMX gene maps to chromosome Xq26 and the RBMY gene family is found on all mammalian Y chomosomes.

Catalog Number: BOSSBS-12290R-A488

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Description: The RBM (RNA-binding motif) gene family encodes proteins with an RNA binding motif. RBMY (RBM, Y chromosome) encodes a germ-cell specific nuclear protein involved in spermatogenesis. The RBM gene family, including RBMY1A, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1H and RBMY1J, is comprised of at least 30 genes and pseudogenes, found on both arms of the Y chromosome. RBM X, an ancestral X chromosome homolog of the RBMY gene, encodes hnRNP G, which is widely expressed, whereas the RBMY gene evolved a male-specific function in spermatogenesis. Micro-deletions of the AZFb region of the Y chromosome, which contains a number of RBMY genes, usually result in severe consequences for spermatogenesis. RBM expression is localized to the nuclei of germ cells and RBM interacts with Tra2beta. Tra2beta is a ubiquitous activator of pre-mRNA splicing, but is most highly expressed in testis, suggesting a role for RBM in Tra2beta-dependent splicing in spermatocytes. The human RBMX gene maps to chromosome Xq26 and the RBMY gene family is found on all mammalian Y chomosomes.

Catalog Number: BOSSBS-12290R-FITC

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Description: PCDHGB5 is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes.

Catalog Number: BOSSBS-5827R-CY5

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Description: 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.

Catalog Number: BOSSBS-8143R-A350

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Description: 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.

Catalog Number: BOSSBS-8654R-CY5.5

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Description: 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.

Catalog Number: BOSSBS-8143R-FITC

UOM: 1 * 100 µl

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Description: This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]

Catalog Number: BOSSBS-3927R-A350

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Description: This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]

Catalog Number: BOSSBS-3927R-FITC

UOM: 1 * 100 µl

Supplier: Bioss

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