Rabbit anti-Mouse SLC33A1/AT-1 Polyclonal Antibody | anti-SLC33A1/AT-1 antibody
SLC33A1/AT-1 Rabbit pAb
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
Uniprot Description
SLC33A1: Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides. Defects in SLC33A1 are the cause of spastic paraplegia autosomal dominant type 42 (SPG42). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Defects in SLC33A1 are the cause of congenital cataracts, hearing loss, and neurodegeneration (CCHLND). CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. Belongs to the SLC33A transporter family.
Protein type: Membrane protein, integral; Transporter; Transporter, SLC family; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 3q25.31
Cellular Component: Golgi membrane; endoplasmic reticulum membrane; membrane; integral to plasma membrane
Molecular Function: acetyl-CoA transporter activity; solute:hydrogen symporter activity
Biological Process: proton transport; acetyl-CoA transport; transport; transmembrane transport
Disease: Spastic Paraplegia 42, Autosomal Dominant; Congenital Cataracts, Hearing Loss, And Neurodegeneration
Research Articles on SLC33A1/AT-1
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Product Notes
The SLC33A1/AT-1 slc33a1 (Catalog #AAA4754746) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The SLC33A1/AT-1 Rabbit pAb reacts with Mouse and may cross-react with other species as described in the data sheet. AAA Biotech's SLC33A1/AT-1 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). WB: 1:1000-1:5000. Researchers should empirically determine the suitability of the SLC33A1/AT-1 slc33a1 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 "SLC33A1/AT-1, 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
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