Immunohistochemistry (IHC)
(Human kidney )
Rabbit SPTLC1 Polyclonal Antibody | anti-SPTLC1 antibody
SPTLC1 antibody - middle region
Immunohistochemistry (IHC)
(Human kidney )
Immunohistochemistry (IHC)
(Human kidney )
Western Blot (WB)
(WB Suggested Anti-SPTLC1 Antibody Titration: 0.5ug/mlPositive Control: HepG2 cell lysate)
Western Blot (WB)
(WB Suggested Anti-SPTLC1 Antibody Titration: 0.5ug/mlPositive Control: HepG2 cell lysate)
Target Description: Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. SPTLC1 is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in SPTLC1 gene were identified in patients with hereditary sensory neuropathy type 1.Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]
Uniprot Description
SPTLC1: Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. Defects in SPTLC1 are the cause of hereditary sensory and autonomic neuropathy type 1A (HSAN1A). The hereditary sensory and autonomic neuropathies are a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN1A is an autosomal dominant axonal neuropathy with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Lipid Metabolism - sphingolipid; EC 2.3.1.50; Transferase; Membrane protein, integral
Chromosomal Location of Human Ortholog: 9q22.2
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: protein binding; serine C-palmitoyltransferase activity; pyridoxal phosphate binding
Biological Process: sphingolipid metabolic process; sphingolipid biosynthetic process; sphingosine biosynthetic process; ceramide biosynthetic process; sphinganine biosynthetic process; sphingomyelin biosynthetic process
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Research Articles on SPTLC1
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Product Notes
The SPTLC1 sptlc1 (Catalog #AAA3208299) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The SPTLC1 antibody - middle region reacts with Cow, Dog, Guinea Pig, Horse, Human, Mouse, Rabbit, Rat, Yeast, Zebrafish and may cross-react with other species as described in the data sheet. AAA Biotech's SPTLC1 can be used in a range of immunoassay formats including, but not limited to, Immunohistochemistry (IHC), Western Blot (WB). Researchers should empirically determine the suitability of the SPTLC1 sptlc1 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. The amino acid sequence is listed below: Synthetic peptide located within the following region: ICPLPELVKL KYKYKARIFL EESLSFGVLG EHGRGVTEHY GINIDDIDLI. It is sometimes possible for the material contained within the vial of "SPTLC1, 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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