You Searched For: Bioss

Catalog Number: (76099-234)

Supplier: Bioss

Description: Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf201 gene product has been provisionally designated C6orf201 pending further characterization.

Catalog Number: (76099-260)

Supplier: Bioss

Description: Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf35 gene product has been provisionally designated C6orf35 pending further characterization.

Catalog Number: (76099-232)

Supplier: Bioss

Description: C6ORF199.

Catalog Number: (76099-226)

Supplier: Bioss

Description: Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf195 gene product has been provisionally designated C6orf195 pending further characterization.

Catalog Number: (76099-258)

Supplier: Bioss

Description: Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf35 gene product has been provisionally designated C6orf35 pending further characterization.

Catalog Number: (76099-310)

Supplier: Bioss

Description: Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf26 gene product has been provisionally designated C7orf26 pending further characterization.

Catalog Number: (76099-322)

Supplier: Bioss

Description: Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf42 gene product has been provisionally designated C7orf42 pending further characterization.

Catalog Number: (76099-294)

Supplier: Bioss

Description: Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf10 gene product has been provisionally designated C7orf10 pending further characterization.

Catalog Number: (76120-284)

Supplier: Bioss

Description: C11orf57, also known as FLJ10726, is a 292 amino acid protein that exists as three alternatively spliced isoforms and is encoded by a gene located on human chromosome 11. With approximately 135 million base pairs and 1400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and _ thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

Catalog Number: (76120-336)

Supplier: Bioss

Description: The smallest of the human chromosomes, 21 makes up about 1.5% of the human genome. Chromosome 21 contains nearly 300 genes and 47 million base pairs. Down syndrome, also known as trisomy 21, is the disease most commonly associated with chromosome 21. Alzheimer's disease, Jervell and Lange-Nielsen syndrome and amyotrophic lateral sclerosis are also associated with chromosome 21. Translocations are found to occur between chromosome 21 and 8, and chromosome 21 and 12, in certain leukemias. The C21orf62 gene product has been provisionally designated C21orf62 pending further characterization.

Catalog Number: (76120-282)

Supplier: Bioss

Description: C11orf57, also known as FLJ10726, is a 292 amino acid protein that exists as three alternatively spliced isoforms and is encoded by a gene located on human chromosome 11. With approximately 135 million base pairs and 1400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and _ thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

Catalog Number: (76120-292)

Supplier: Bioss

Description: C11orf71, also known as FLJ20010, is a 123 amino acid protein that exists as two alternatively spliced isoforms and is encoded by a gene located on human chromosome 11. With approximately 135 million base pairs and 1400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and _ thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

Catalog Number: (76120-280)

Supplier: Bioss

Description: C11orf24, also known as DM4E3, is a 449 amino acid single-pass type I membrane protein that is expressed in brain, lung, skeletal muscle, kidney, spleen, prostate, testis, ovary and small intestine, with highest expression in heart, placenta, liver, pancreas and colon, and low expression in thymus and leukocytes. C11orf24 is encoded by a gene located on human chromosome 11, which consists of approximately 135 million base pairs and 1400 genes. Chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and _ thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

Catalog Number: (76099-762)

Supplier: Bioss

Description: Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).

Catalog Number: (76099-752)

Supplier: Bioss

Description: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mental retardation and the widespread development of distinctive tumors termed hamartomas. Two different genetic loci have been linked to TSC; one of these loci, the tuberous sclerosis-2 gene (TSC2), encodes a protein called tuberin and the other loci, tuberous sclerosis-1 gene (TSC1), encodes a protein called hamartin. Tuberin and hamartin interact with each other forming a cystoplasmic complex. Hamartin interacts with the ezrin-radixin-moesin (ERM) family of actin-binding proteins and inhibition of hamartin activity results in loss of cell adhesion. Hamartin is present in most adult tissues with strong expression in brain, heart, and kidney.

Catalog Number: (76099-772)

Supplier: Bioss

Description: HAPLN3.