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Catalog Number: (76100-002)
Supplier: Bioss
Description: HHAT is a 493 amino acid multi-pass membrane protein that localizes to the endoplasmic reticulum and belongs to the membrane-bound acyltransferase family. Expressed ubiquitously, HHAT functions to catalyze the N-terminal palmitoylation of SSH (slingshot homolog), an event that is required for SHH signaling pathways. HHAT is expressed in cancer cell lines, suggesting a role for HHAT in tumorigenesis. The gene encoding HHAT maps to human chromosome 1 and is expressed as four alternatively spliced isoforms. Chromosome 1 is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. Several disorders, including Stickler syndrome, Parkinsons Disease, Gaucher disease, malignant melanoma and Usher syndrome, are caused by defects in genes that localize to chromosome 1.


Catalog Number: (75913-774)
Supplier: Biotium
Description: This antibody reacts with Ig domain of CD47 protein. It has been shown to inhibit polymorphonuclear neutrophil (PMN) transmigration across cell monolayers and matrix. CD47, originally named integrin-associated protein (IAP), is a 50 kDa protein containing five membrane-spanning sequences and a short cytoplasmic tail. CD47 plays a role in both cell adhesion by acting as an adhesion receptor for THBS1 on platelets, and in the modulation of integrins. It is important in memory formation and synaptic plasticity in the hippocampus. CD47 may play a role in membrane transport and/or integrin dependent signal transduction.


Catalog Number: (10414-302)
Supplier: Bioss
Description: PMVK is a 192 amino acid peroxisomal enzyme belonging to the nucleoside monophosphate (NMP) kinase family and is expressed in heart, liver, skeletal muscle, kidney, and pancreas with lower expression in brain, placenta and lung. Induced by sterol, PMVK participates in isopentenyl diphosphate biosynthesis via the mevalonate pathway. PMVK catalyzes the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate in the fifth reaction of the cholesterol biosynthetic pathway. PMVK exists as a monomer and is encoded by a gene located on human chromosome 1, which houses over 3,000 genes and is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome.


Catalog Number: (77440-564)
Supplier: Bioss
Description: CTTNBP2NL is a 639 amino acid protein that is encoded by a gene that maps to human chromosome 1p13.2. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.


Catalog Number: (10308-374)
Supplier: Bioss
Description: MRP5 (190-200 kDa) is closely related to MRP4, both lacking the first five membrane spanning regions. MRP5 is a GS-X multi specific organic anion pump (nucleotide analogs). MRP5 may transport DNP-GS and may be inhibited by certain inhibitors of organic anion transport (sulfinpyrazone). MRP5 may also transport organic anions with the anionic moiety of phosphate/phosphonate group, a function which provides the ability to resist against anti cancer drugs 6-MP and thioguanine as well as the anti-HIV drug PMEA.


Catalog Number: (10316-544)
Supplier: Bioss
Description: Belonging to the CAF17 subfamily of the gcvT family, C1orf69 is a 356 amino acid mitochondrial protein that is required for normal heme synthesis. Heme synthesis is dependent upon receiving iron through iron sulfur (Fe-S) cluster biogenesis proteins such as C1orf69, which is specifically thought to assemble Fe-S clusters for mitochondrial aconitase and lipoate synthase. In zebrafish, deficiency of C1orf69 causes anemia. The gene encoding C1orf69 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1.


Catalog Number: (10244-912)
Supplier: Bioss
Description: This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]


Catalog Number: (10102-840)
Supplier: Prosci
Description: SGCB is a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix.The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the sarcoglycans (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000 [PubMed 10942431]).


Catalog Number: (10801-990)
Supplier: Rockland Immunochemical
Description: BAMBI (BMP and activin membrane-bound inhibitor homolog, NMA) is a membrane spanning glycoprotein that acts as a negative regulator of TGF-beta signaling during development (1). BAMBI transcription regulation is under the influence of beta-catenin, BMP, smad3 and smad4 (2,3). BAMBI expression can increase in colorectal and hepatocellular carcinomas relative to non-cancerous tissues (4). BAMBI is expressed at high levels during odontogenesis. BAMBI is coexpressed with Bmp-4 during early Xenopus embryogenesis and can be detected in poorly metastatic human melanoma cell lines (5).


Catalog Number: (10800-220)
Supplier: Rockland Immunochemical
Description: Autophagy, the process of bulk degradation of cellular proteins through an autophagosomic-lysosomal pathway is important for normal growth control and may be defective in tumor cells. It is involved in the preservation of cellular nutrients under starvation conditions as well as the normal turnover of cytosolic components. This process is negatively regulated by TOR (Target of rapamycin) through phosphorylation of autophagy protein APG1. ATG9A, a multi-spanning membrane protein localizing to the Golgi apparatus and late endosomes, has been proposed to mediate membrane transport to generate autophagosomes. ATG9A has also been implicated as a regulator of STING (stimulator of interferon genes)-mediated innate immune response.


Catalog Number: (75933-806)
Supplier: Rockland Immunochemical
Description: The mammalian Kelch-like 1 (KLHL1) was initially discovered as a homolog to the Drosophila Kelch gene that is highly expressed in several brain tissues. The predicted protein domain structure of KLHL1 is characteristic of a number of proteins that bind actin, form dimers, and often act as actin-organizing proteins. Based on the presence of anti-sense RNA that spans the transcription and translation start sites as well as the first splice site of KLHL1 in brain tissue of individuals suffering from the neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8), it has been suggested that KLHL1 is involved this disease and that regulation of KLHL1 protein may be affected by antisense RNA expression.


Catalog Number: (10244-932)
Supplier: Bioss
Description: This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]


Catalog Number: (10259-756)
Supplier: Bioss
Description: ATP13A2 is a 1,180 amino acid multi-pass membrane protein that belongs to the P5 subfamily of ATPases which play an important role in the transportation of inorganic cations. Expressed as multiple alternative spliced isoforms, ATP13A2 functions to catalyze the conversion of ATP to ADP and a free phosphate, thereby participating in the active transport of ions across cellular membranes. Defects in the gene encoding ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS), a rare hereditary type of Parkinson’s disease that exhibits juvenile onset and is characterized by neurodegeneration and dementia. The ATP13A2 gene maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.


Catalog Number: (10294-170)
Supplier: Bioss
Description: The FHAD1 gene encodes a 1,420 amino acid protein and maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10294-166)
Supplier: Bioss
Description: The FHAD1 gene encodes a 1,420 amino acid protein and maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10294-168)
Supplier: Bioss
Description: The FHAD1 gene encodes a 1,420 amino acid protein and maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.


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