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Gemin1/SMN Antibody- Mouse Anti-SMN
This gene is part of a 500 kb inverted duplication on chromosome 5q13 This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region The telomeric and centromeric copies of this gene are nearly identical and encode the same protein However mutations in this gene the telomeric copy are associated with spinal muscular atrophy mutations in the centromeric copy do not lead to disease The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer It is thought that gene conversion events may involve the two genes leading to varying copy numbers of each gene The protein encoded by this gene localizes to both the cytoplasm and the nucleus Within the nucleus the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs) This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN 4 and also interacts with several proteins known to be involved in the biogenesis of snRNPs such as hnRNP U protein and the small nucleolar RNA binding protein Two transcript variants are produced by this gene
£226.00
Lamin A/C mutant R453W Antibody ; Mouse Anti-Lamin A/C mutant R453W
Nuclear lamins are intermediate filament proteins that are the major structural component of the nuclear lamina on the inner surface of the nuclear envelope. Lamin A and Lamin C are splice variants of the Lamin A gene. Lamin A/C (CDCD1, LMN1, EMD2) expression is a hallmark of embryonic stem cell differentiation. In addition to adding structural integrity to the nucleus, lamins contribute to the makeup of the nuclear matrix. Lamins also help organize interphase chromatin through interactions with several chromatin proteins, including histones and Lap2, such that alteration in lamin organization (laminopathy) results in disruption of DNA replication, transcription and RNA processing. The R453W mutation is one of the most common causes of autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD)
£226.00
NOX2/gp91phox Antibody- Mouse Anti-gp91phox
NOX2/gp91phox is a critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. It also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. Defects in CYBB are a cause of X-linked chronic granulomatous disease (X-CGD). X-CGD is characterized by the failure of activated phagocytes to generate superoxide. Patients suffer from life-threatening bacterial/fungal infections
£226.00
NOX2/gp91phox Antibody- Mouse Anti-gp91phox
NOX2/gp91phox is a critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. It also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. Defects in CYBB are a cause of X-linked chronic granulomatous disease (X-CGD). X-CGD is characterized by the failure of activated phagocytes to generate superoxide. Patients suffer from life-threatening bacterial/fungal infections
£226.00
NOX2/gp91phox Antibody- Mouse Anti-gp91phox
NOX2/gp91phox is a critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. It also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. Defects in CYBB are a cause of X-linked chronic granulomatous disease (X-CGD). X-CGD is characterized by the failure of activated phagocytes to generate superoxide. Patients suffer from life-threatening bacterial/fungal infections
£226.00
OVCA1 Antibody- Rabbit Anti-OVCA1
Chromosome 17 is a hotspot for chromosomal aberrations in breast and ovarian cancer. Candidate oncogenes and tumor suppressors located on this chromosome include OVCA1 and OVCA2, p53, BRCA1, HER2/neu and others. OVCA1 and 2 map to a highly conserved region on human chromosome 17p13.3 that is deleted in 80% of ovarian cancers and shows frequent loss of heterozygosity in breast cancers . OVCA1 is induced by BRCA1 and is closely linked to p53, a well-known tumor suppressor gene. The close linkage of OVCA1 and p53 suggests that coordinated loss of the two genes may lead to ovarian, breast and other tumor types
£226.00
OVCA1 Antibody- Rabbit Anti-OVCA1
Chromosome 17 is a hotspot for chromosomal aberrations in breast and ovarian cancer. Candidate oncogenes and tumor suppressors located on this chromosome include OVCA1 and OVCA2, p53, BRCA1, HER2/neu and others. OVCA1 and 2 map to a highly conserved region on human chromosome 17p13.3 that is deleted in 80% of ovarian cancers and shows frequent loss of heterozygosity in breast cancers . OVCA1 is induced by BRCA1 and is closely linked to p53, a well-known tumor suppressor gene. The close linkage of OVCA1 and p53 suggests that coordinated loss of the two genes may lead to ovarian, breast and other tumor types
£183.00
OVCA2 Antibody- Rabbit Anti-OVCA2
Chromosome 17 is a hotspot for chromosomal aberrations in breast and ovarian cancer. Candidate oncogenes and tumor suppressors located on this chromosome include OVCA1 and OVCA2, p53, BRCA1, HER2/neu and others. OVCA1 and 2 map to a highly conserved region on human chromosome 17p13.3 that is deleted in 80% of ovarian cancers and shows frequent loss of heterozygosity in breast cancers . OVCA1 is induced by BRCA1 and is closely linked to p53, a well-known tumor suppressor gene. The close linkage of OVCA1 and p53 suggests that coordinated loss of the two genes may lead to ovarian, breast and other tumor types
£226.00
Progerin Antibody ; Mouse Anti-Progerin
Progerin is a 614 amino acid protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a point mutation (C1824T) in the LMNA gene that codes for lamin A and C. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a 50-amino acids internal deletion within the carboxyl-terminal domain of the protein. Approximately 80% of Hutchinson-Gilford progeria syndrome cases carry a single copy of the most common mutation, a silent point mutation, G608G (GGC > GGT), within exon 11 of LMNA gene
£226.00
SMN (Gemin1) Antibody- Mouse Anti-SMN
This gene is part of a 500 kb inverted duplication on chromosome 5q13 This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region The telomeric and centromeric copies of this gene are nearly identical and encode the same protein However mutations in this gene the telomeric copy are associated with spinal muscular atrophy mutations in the centromeric copy do not lead to disease The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer It is thought that gene conversion events may involve the two genes leading to varying copy numbers of each gene The protein encoded by this gene localizes to both the cytoplasm and the nucleus Within the nucleus the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs) This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN 4 and also interacts with several proteins known to be involved in the biogenesis of snRNPs such as hnRNP U protein and the small nucleolar RNA binding protein Two transcript variants are produced by this gene
£183.00
