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Catalog Number: (10259-754)
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: (10259-750)
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: (10259-736)
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: (10297-118)
Supplier: Bioss
Description: GLT25D2 is a 626 amino acid protein that localizes to endoplasmic reticulum lumen and belongs to the glycosyltransferase 25 family. Possessing beta-galactosyltransferase activity, GLT25D2 transports beta-galactose to hydroxylysine residues on collagen but lacks glucosyltransferase activity. GLT25D2 is expressed in skeletal muscle and brain, and is encoded by a gene located on human chromosome 1q25.3, a region associated with the hereditary prostate cancer (HPC1) locus. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.


Catalog Number: (10297-120)
Supplier: Bioss
Description: GLT25D2 is a 626 amino acid protein that localizes to endoplasmic reticulum lumen and belongs to the glycosyltransferase 25 family. Possessing beta-galactosyltransferase activity, GLT25D2 transports beta-galactose to hydroxylysine residues on collagen but lacks glucosyltransferase activity. GLT25D2 is expressed in skeletal muscle and brain, and is encoded by a gene located on human chromosome 1q25.3, a region associated with the hereditary prostate cancer (HPC1) locus. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.


Catalog Number: (10300-096)
Supplier: Bioss
Description: G protein-coupled receptors (GPRs) are a protein family of transmembrane receptors that transmit an extracellular signal (ligand binding) into an intracellular signal (G protein activation). GPR signaling is an evolutionarily ancient mechanism used by all eukaryotes to sense environmental stimuli and mediate cell-cell communication. GPRs all have seven membrane-spanning domains and extracellular loops that can be glycosylated. These extracellular loops also contain two highly conserved cysteine residues which create disulfide bonds to stabilize the receptor structure. SREB1 (super conserved receptor expressed in brain 1), also known as GPR27 (G protein-coupled receptor 27), belongs to the SREB subfamily of GPRs that are expressed in the central nervous system. SREB1 may function as an amine-like GPR.


Catalog Number: (10316-374)
Supplier: Bioss
Description: SZT2 (seizure threshold 2 homolog (mouse)), also known as SZT2A or SZT2B, is a 3,432 amino acid peroxisomal protein that plays a role in resistance to oxidative stress. Predominantly expressed in the parietal and frontal cortex, as well as in dorsal root ganglia of the brain, SZT2 is implicated in superoxide dismutase activity and the neuroprotection in peroxisomes. Existing as four alternatively spliced isoforms, SZT2 is thought to enhance epileptogenesis and is encoded by a gene that maps to human chromosome 1p34.2. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson?s disease, Gaucher disease, schizophrenia and Usher syndrome.


Catalog Number: (10289-800)
Supplier: Bioss
Description: ECHDC2 is a 292 amino acid mitochondrial protein that exists as two isoforms which are produced by alternative splicing events. The gene encoding ECHDC2 maps to chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 encodes a large number of disease-associated proteins, including Lamin A which, when expressed abnormally, can build up in the nucleus and cause nuclear blebs, a characteristic of the rare aging disease Hutchinson-Gilford progeria. Additionally, genes that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinsons Disease, Gaucher disease, schizophrenia and Usher syndrome are all located on chromosome 1. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10247-054)
Supplier: Bioss
Description: TNF Alpha-IP 8L2 (tumor necrosis factor, alpha-induced protein 8-like 2), also known as TIPE2, is a 184 amino acid protein that shares 94% identity with its mouse counterpart and belongs to the TNFAIP8 family. Expressed in spleen, thymus, small intestine and lymph node with lower levels present in colon, lung and skin, TNF Alpha-IP 8L2 plays a role in maintaining immune homeostasis, specifically by acting as a negative regulator of both innate and adaptive immunity. In addition, TNF?IP 8L2 functions as a negative regulator of T-cell receptor function and is thought to promote Fas-induced apoptosis. The gene encoding TNF?IP 8L2 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: (10263-430)
Supplier: Bioss
Description: The regulators of G protein signaling (RGS) proteins inhibit heterotrimeric G protein signaling. RGS proteins work by functioning as GTPase-activators (which increase the GTPase activity of G protein a-subunits) thereby driving G proteins into their inactive GDP-bound form. RGS21 (regulator of G-protein signaling 21) is a 152 amino acid protein that is ubiquitously expressed and contains one RGS domain. The gene encoding RGS21 maps to human chromosome 1q31.2 and mouse chromosome 1 F. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.


Catalog Number: (75930-636)
Supplier: Rockland Immunochemical
Description: Antigen stimulation of immune cells triggers Ca++ entry through Ca++ release-activated Ca++ (CRAC) channels. ORAI1 is a recently identified four-transmembrane spanning protein that is an essential component of CRAC. A missense mutation in this protein in humans is the cause of one fo rm of hereditary severe combined immune deficiency (SCID) which results in ablated T-cell Ca++ entry. It has been suggested that ORAI1 functions as a highly selective Ca++ plasma membrane channel that is gated through interactions with STIM1, the store-activated endoplasmic reticulum Ca++ sensor. ORAI1 often migrates at a higher than expected molecular weight in SDS-PAGE. This antibody is predicted to have no cross-reactivity to ORAI2 or ORAI3.


Catalog Number: (10361-366)
Supplier: Bioss
Description: KNDC1 is a 1,749 amino acid protein that contains two KIND domains and an N-terminal Ras-GEF domain. Expressed in the cerebral cortex, KNDC1 is a likely guanine nucleotide exchange factor (GEF). Existing as six alternatively spliced isoforms, the gene encoding KNDC1 maps to human chromosome 10q26.3 and mouse chromosome 7 F4. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.


Catalog Number: (10263-444)
Supplier: Bioss
Description: The regulators of G protein signaling (RGS) proteins inhibit heterotrimeric G protein signaling. RGS proteins work by functioning as GTPase-activators (which increase the GTPase activity of G protein a-subunits) thereby driving G proteins into their inactive GDP-bound form. RGS21 (regulator of G-protein signaling 21) is a 152 amino acid protein that is ubiquitously expressed and contains one RGS domain. The gene encoding RGS21 maps to human chromosome 1q31.2 and mouse chromosome 1 F. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.


Catalog Number: (10299-196)
Supplier: Bioss
Description: The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. GOLPH3L (golgi phosphoprotein 3-like), also known as GPP34R, is a 285 amino acid cytoplasmic protein that localizes to the Golgi apparatus. Belonging to the GOLPH3/VPS74 family, GOLPH3L may have a regulatory role in Golgi trafficking. GOLPH3L is encoded by a gene located on human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10299-156)
Supplier: Bioss
Description: The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. GOLPH3L (golgi phosphoprotein 3-like), also known as GPP34R, is a 285 amino acid cytoplasmic protein that localizes to the Golgi apparatus. Belonging to the GOLPH3/VPS74 family, GOLPH3L may have a regulatory role in Golgi trafficking. GOLPH3L is encoded by a gene located on human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10361-368)
Supplier: Bioss
Description: KNDC1 is a 1,749 amino acid protein that contains two KIND domains and an N-terminal Ras-GEF domain. Expressed in the cerebral cortex, KNDC1 is a likely guanine nucleotide exchange factor (GEF). Existing as six alternatively spliced isoforms, the gene encoding KNDC1 maps to human chromosome 10q26.3 and mouse chromosome 7 F4. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.


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