Rabbit SLC35C1 Polyclonal Antibody | anti-SLC35C1 antibody
SLC35C1 antibody
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Uniprot Description
SLC35C1: Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. Defects in SLC35C1 are the cause of congenital disorder of glycosylation type 2C (CDG2C); also known as leukocyte adhesion deficiency type II (LAD2). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. Belongs to the TPT transporter family. SLC35C subfamily.
Protein type: Transporter, SLC family; Transporter; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11p11.2
Cellular Component: Golgi membrane; Golgi apparatus; integral to membrane
Biological Process: carbohydrate transport; lipid glycosylation; negative regulation of Notch signaling pathway; transmembrane transport
Disease: Congenital Disorder Of Glycosylation, Type Iic
Research Articles on SLC35C1
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Product Notes
The SLC35C1 slc35c1 (Catalog #AAA5301770) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's SLC35C1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). WB: 1.25 ug/ml. Researchers should empirically determine the suitability of the SLC35C1 slc35c1 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 "SLC35C1, 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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