Human serine palmitoyltransferase, long chain base subunit 2 ELISA Kit | SPTLC2 elisa kit
Human Serine palmitoyltransferase 2, SPTLC2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
Uniprot Description
SPTLC2: Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SSSPTA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SSSPTB complex displays a preference for C18-CoA substrate. Defects in SPTLC2 are the cause of hereditary sensory and autonomic neuropathy type 1C (HSAN1C). It is a form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Protein type: Membrane protein, integral; Lipid Metabolism - sphingolipid; EC 2.3.1.50; Transferase
Chromosomal Location of Human Ortholog: 14q24.3
Cellular Component: endoplasmic reticulum membrane; mitochondrion; integral to membrane
Molecular Function: 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 Ic
Research Articles on SPTLC2
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Product Notes
The Human SPTLC2 sptlc2 (Catalog #AAA9338415) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9338415 ELISA Kit recognizes Human SPTLC2. It is sometimes possible for the material contained within the vial of "serine palmitoyltransferase, long chain base subunit 2, ELISA Kit" 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
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