You Searched For: HARRISON+SMITH+FRENCH+FLINT

Catalog Number: (BOSSBS-13449R-HRP)

Supplier: Bioss

Description: GLYATL2 is a 294 amino acid mitochondrial acyltransferase that transfers the acyl group to the N-terminus of glycine. GLYATL2 can also conjugate a multitude of substrates, including oleoyl-CoA and arachidonoyl-CoA, to form a variety of N-acylglycines. A member of the glycine N-acyltransferase family, GLYATL2 is encoded by a gene that maps to human chromosome 11q12.1. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-13037R-CY5)

Supplier: Bioss

Description: Dyggve-Melchior-Clausen syndrome (DMC), a rare autosomal recessive disorder, is characterized by microcephaly, short trunk dwarfism and sometime psychomotor retardation. Cutaneous cells of affected individuals show dilated rough endoplasmic reticulum and enlarged vacuoles. The Dyggve-Melchior-Clausen syndrome protein, also designated dymeclin, may play a role in proteoglycan metabolism and intracellular protein digestion. It is a widely expressed multi-pass membrane protein, detected primarily in chondrocytes and fetal brain tissue. Defects in dymeclin are also the cause of Smith-McCort dysplasis syndrome (SMC), which has characteristics identical to those of Dyggve-Melchior-Clausen syndrome.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-4841R-HRP)

Supplier: Bioss

Description: TACI is a lymphocyte specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein binds to both APRIL and BAFF and induces activation of the transcription factors NFAT (nuclear-factor of activated T cells), AP1, and NF kappa B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith Magenis syndrome region on chromosome 17.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-13444R)

Supplier: Bioss

Description: GLYATL1 is a 302 amino acid mitochondrial acyltransferase that transfers the acyl group to the N-terminus of glycine. GLYATL1 can also conjugate a multitude of substrates to form a variety of N-acylglycines. A member of the glycine N-acyltransferase family, GLYATL1 exists as two alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 11q12.1. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-6070R-HRP)

Supplier: Bioss

Description: LLGL1 is a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene for LLGL1 is located within the Smith-Magenis syndrome region on chromosome 17. LLGL2 is a protein similar to lethal giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-6070R-CY7)

Supplier: Bioss

Description: LLGL1 is a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene for LLGL1 is located within the Smith-Magenis syndrome region on chromosome 17. LLGL2 is a protein similar to lethal giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-6070R-FITC)

Supplier: Bioss

Description: LLGL1 is a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene for LLGL1 is located within the Smith-Magenis syndrome region on chromosome 17. LLGL2 is a protein similar to lethal giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-6070R-A488)

Supplier: Bioss

Description: LLGL1 is a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene for LLGL1 is located within the Smith-Magenis syndrome region on chromosome 17. LLGL2 is a protein similar to lethal giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-6070R-A647)

Supplier: Bioss

Description: LLGL1 is a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene for LLGL1 is located within the Smith-Magenis syndrome region on chromosome 17. LLGL2 is a protein similar to lethal giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-6070R-A555)

Supplier: Bioss

Description: LLGL1 is a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene for LLGL1 is located within the Smith-Magenis syndrome region on chromosome 17. LLGL2 is a protein similar to lethal giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-13037R-A680)

Supplier: Bioss

Description: Dyggve-Melchior-Clausen syndrome (DMC), a rare autosomal recessive disorder, is characterized by microcephaly, short trunk dwarfism and sometime psychomotor retardation. Cutaneous cells of affected individuals show dilated rough endoplasmic reticulum and enlarged vacuoles. The Dyggve-Melchior-Clausen syndrome protein, also designated dymeclin, may play a role in proteoglycan metabolism and intracellular protein digestion. It is a widely expressed multi-pass membrane protein, detected primarily in chondrocytes and fetal brain tissue. Defects in dymeclin are also the cause of Smith-McCort dysplasis syndrome (SMC), which has characteristics identical to those of Dyggve-Melchior-Clausen syndrome.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-13449R)

Supplier: Bioss

Description: GLYATL2 is a 294 amino acid mitochondrial acyltransferase that transfers the acyl group to the N-terminus of glycine. GLYATL2 can also conjugate a multitude of substrates, including oleoyl-CoA and arachidonoyl-CoA, to form a variety of N-acylglycines. A member of the glycine N-acyltransferase family, GLYATL2 is encoded by a gene that maps to human chromosome 11q12.1. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-11940R-FITC)

Supplier: Bioss

Description: Retinoic acid induced 1 (RAI1) is a 1,906 amino acid protein containing an N-terminal polyglutamine stretch that is expressed in most tissues, with highest expression in neuronal tissues. RAI1 functions as a transcriptional regulator and is important for embryonic and postnatal developments. Heterozygous deletions of the RAI1 gene are associated with Smith-Magenis syndrome (SMS), a mental retardation syndrome with behavioral, neurological and skeletal anomalies. Individuals affected with SMS usually display self-injurious behaviors, sleep disturbance, developmental delay and reduced motor and cognitive skills. RAI1 haploinsufficiency is specifically responsible for the obesity and craniofacial symptoms of SMS. RAI1 mutations have also been implicated in schizophrenia and spinocerebellar ataxia type 2.

UOM: 1 * 100 µl

Catalog Number: (661-0176)

Supplier: Mettler - Toledo

Description: Operating instructions for DV1000 (English/German/French/Spanish/Italian), For: Mettler titrators

UOM: 1 * 1 items

Catalog Number: (BOSSBS-11940R-A680)

Supplier: Bioss

Description: Retinoic acid induced 1 (RAI1) is a 1906 amino acid protein containing an N-terminal polyglutamine stretch that is expressed in most tissues, with highest expression in neuronal tissues. RAI1 functions as a transcriptional regulator and is important for embryonic and postnatal developments. Heterozygous deletions of the RAI1 gene are associated with Smith-Magenis syndrome (SMS), a mental retardation syndrome with behavioural, neurological and skeletal anomalies. Individuals affected with SMS usually display self-injurious behaviors, sleep disturbance, developmental delay and reduced motor and cognitive skills. RAI1 haploinsufficiency is specifically responsible for the obesity and craniofacial symptoms of SMS. RAI1 mutations have also been implicated in schizophrenia and spinocerebellar ataxia type 2.

UOM: 1 * 100 µl

Catalog Number: (BOSSBS-8087R-A488)

Supplier: Bioss

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. CCDC83 (coiled-coil domain-containing protein 83), also known as HSD9, is 413 amino acid protein that exists as three alternatively spliced isoforms. The gene encoding CCDC83 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.

UOM: 1 * 100 µl