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Catalog Number:
(76108-494)
Supplier:
Bioss
Description:
Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
Catalog Number:
(10481-212)
Supplier:
Bioss
Description:
Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
Catalog Number:
(76110-900)
Supplier:
Bioss
Description:
Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein BCL3 in the (14;19) translocations found in a variety of B cell malignancies. The C14orf140 gene product has been provisionally designated C14orf140 pending further characterization.
Catalog Number:
(CABX1160-3)
Supplier:
MilliporeSigma
Description:
All are certified by the Biological Stain Commission.
Catalog Number:
(10490-232)
Supplier:
Bioss
Description:
SMARCD3, is a member of the SMARCD family and contains one SWIB domain. Two isoforms, isoform 1 and isoform 2 exist due to alternative splicing events. Both isoforms are expressed in placenta, salivary gland, kidney, brain, trachea, uterus, prostate, testis, thyroid, spleen and heart, while isoform 1 is also expressed in adipose tissue and skeletal muscle. Localizing to the nucleus, SMARCD3 is a component of the ATP-dependent chromatin remodeling complex SNF/SWI and is believed to play a role in nucleosome remodeling. SMARCD3 also plays an important role in the regulation of muscle development. In mice, the silencing of the gene en-coding SMARCD3 leads to defects in heart morphogenesis. In addition, both isoforms of SMARCD3 directly interact with and function as coactivators for several transcription factors.
Catalog Number:
(76117-978)
Supplier:
Bioss
Description:
The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK-regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response.
Catalog Number:
(10431-200)
Supplier:
Bioss
Description:
RbAp48 (Retinoblastoma-binding protein p48 or Rb-associated protein p48)is a WD repeat protein that is a core histone binding subunit common to several complexes involved in chromatin assembly, chromatin remodeling, and histone deacetylation. These complexes include Chromatin Assembly Factor 1 (CAF1), which is required for chromatin assembly following DNA replication and repair, the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and subsequent transcriptional repression, the nucleosome remodeling and histone deacetylation complex NuRD, the nucleosome remodeling factor (NURF) complex, and the PRC2 complex, which promotes repression of homeotic genes during development. RpAp48 also interacts with the retinoblastoma protein, and with SPEN/MINT and BRCA1. It is also a component of the DREAM complex, which represses cell cycle-dependent genes in quiescent cells.
Catalog Number:
(10352-482)
Supplier:
Bioss
Description:
Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]
Catalog Number:
(10663-664)
Supplier:
Bioss
Description:
Rad and Gem related GTP binding protein (REM) is a member of the RGK subfamily of Ras-like GTPases that also includes Rad, REM2 and Gem/Kir. REM is a phosphorylated protein that is highly expressed in cardiac muscle and moderately expressed in lung, kidney and skeletal muscle. REM associates with several 14-3-3 isoforms as well as with calmodulin in a calcium-dependent manner. REM mediates two distinct signal transduction pathways that regulate both cytoskeletal reorganization and voltage-gated calcium channel activity. REM decreases the current that passes through cardiac voltage-gated L-type Ca channels (Ca(V)). Overexpression of REM may result in the development of cytoplasmic processes, reorganization of the Actin cytoskeleton, reduction in focal adhesion size and an elongated or dendritic-like cell morphology.
Catalog Number:
(76121-128)
Supplier:
Bioss
Description:
HSPC117, also known as C22orf28, is a 505 amino acid protein that is encoded by a gene which maps to human chromosome 22. A highly homologous protein identified in rodents, FAAP (focal adhesion associated protein), encoded by murine D10Wsu52e gene, has been suggested to play a role in regulating cell adhesion dynamics. Chromosome 22 houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein BCR-Abl, a potent cell proliferation activator found in several types of leukemias.
Catalog Number:
(76110-312)
Supplier:
Bioss
Description:
The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF185 (ring finger protein 185), also known as FLJ38628, is a 192 amino acid multi-pass membrane protein containing one RING-type zinc finger. Two RNF185 isoforms exist as a result of alternative splicing, and the gene encoding RNF185 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.
Catalog Number:
(76083-208)
Supplier:
Bioss
Description:
MAPK10 (JNK3) is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This protein is a neuron-specific form of c-Jun N-terminal kinases (JNKs). Through its phosphorylation and nuclear localization, this kinase plays regulatory roles in the signaling pathways of neuronal apoptosis. Beta-arrestin 2, a receptor-regulated MAP kinase scaffold protein, is found to interact with and stimulate the phosphorylation of this kinase by MAP kinase kinase 4 (MKK4). Cyclin-dependent kianse 5 (CDK5) can phosphorylate and inhibit the activity of this kinase, which may be important in preventing neuronal apoptosis. Four alternatively spliced transcript variants encoding distinct isoforms have been reported.
Catalog Number:
(10480-514)
Supplier:
Bioss
Description:
GIMAP3p is a murine mitochondrial membrane protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The IAN/GIMAP family consists of GTP-binding proteins that share a unique primary structure and whose expression is finely regulated by T-cell receptor signals. Recent studies have shown that IAN/GIMAP family proteins crucially regulate the survival of T cells during development, selection and homeostasis, and are possibly linked to the onset of T-lymphopenia, leukemia and autoimmunity. IAN/GIMAP family proteins might also take part in mitochondrial regulation of lymphocyte apoptosis by interacting with Bcl-2 family proteins. The human GIMAP (GTPase of the immunity-associated protein) gene family includes seven functional members residing on (human) chromosome 7q36.1 and one pseudogene (hGIMAP3).
Catalog Number:
(76110-996)
Supplier:
Bioss
Description:
Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The FAM78A gene product has been provisionally designated FAM78A pending further characterization.
Catalog Number:
(76120-672)
Supplier:
Bioss
Description:
ANGEL1, also known as KIAA0759, is a 670 amino acid protein belonging to the CKR-4 protein family. ANGEL1 is encoded by a gene located on human chromosome 14, which contains about 700 genes and 106 million base pairs, making up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus on chromosome 14 and its fusion via translocation with the chromosome 19 encoded protein BCL3 may be related to B-cell malignancies.
Catalog Number:
(10419-008)
Supplier:
Bioss
Description:
This gene encodes a protein that shares a high degree of sequence similarity with p21-activated kinase (PAK) family members. The proteins of this family are Rac/Cdc42-associated Ste20-like Ser/Thr protein kinases, characterized by a highly conserved amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. PAK kinases are implicated in the regulation of a number of cellular processes, including cytoskeleton rearrangement, apoptosis and the MAP kinase signaling pathway. The protein encoded by this gene was found to interact with androgen receptor (AR), which is a steroid hormone-dependent transcription factor that is important for male sexual differentiation and development. The p21-activated protein kinase 6 gene was found to be highly expressed in testis and prostate tissues and the encoded protein was shown to cotranslocate into the nucleus with AR in response to androgen.
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