Rabbit anti-Human POMT1 Polyclonal Antibody | anti-POMT1 antibody
POMT1 Antibody Affinity Purified
ELISA: 1:10,000
Western Blot: 1:500
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Uniprot Description
POMT1: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B1 (MDDGB1); also called muscular dystrophy congenital POMT1-related. MDDGB1 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1); also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. MDDGA1 is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C1 (MDDGC1); also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. MDDGC1 is a novel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structural brain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. MDDGC1 is a significantly milder allelic form of WWS. Belongs to the glycosyltransferase 39 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Transferase; Membrane protein, multi-pass; Membrane protein, integral; EC 2.4.1.109; Glycan Metabolism - O-mannosyl glycan biosynthesis
Chromosomal Location of Human Ortholog: 9q34.1
Cellular Component: acrosome; endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; sarcoplasmic reticulum
Molecular Function: dolichyl-phosphate-mannose-protein mannosyltransferase activity; mannosyltransferase activity; metal ion binding
Biological Process: carbohydrate metabolic process; cell wall mannoprotein biosynthetic process; extracellular matrix organization and biogenesis; multicellular organismal development; protein amino acid O-linked glycosylation; protein amino acid O-linked mannosylation
Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Mental Retardation), Type B, 1; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 1
Research Articles on POMT1
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Product Notes
The POMT1 pomt1 (Catalog #AAA540716) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The POMT1 Antibody Affinity Purified reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's POMT1 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Dot Blot: 1:10,000 ELISA: 1:10,000 Western Blot: 1:500. Researchers should empirically determine the suitability of the POMT1 pomt1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "POMT1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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