SPTLC2 cdna clone
SPTLC2 cDNA Clone
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; EC 2.3.1.50; Transferase; Lipid Metabolism - sphingolipid
Chromosomal Location of Human Ortholog: 14q24.3
Cellular Component: endoplasmic reticulum membrane
Molecular Function: serine C-palmitoyltransferase activity
Biological Process: ceramide biosynthetic process; sphingolipid biosynthetic process
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Research Articles on SPTLC2
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Product Notes
The SPTLC2 sptlc2 (Catalog #AAA1278008) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgcggccgg agcccggagg ctgctgctgc cgccgcacgg tgcgggcgaa tggctgcgtg gcgaacgggg aagtacggaa cgggtacgtg aggagcagcg ctgcagccgc agccgcagcc gccgccggcc agatccatca tgttacacaa aatggaggac tatataaaag accgtttaat gaagcttttg aagaaacacc aatgctggtt gctgtgctca cgtatgtggg gtatggcgta ctcaccctct ttggatatct tcgagatttc ttgaggtatt ggagaattga aaagtgtcac catgcaacag aaagagaaga acaaaaggac tttgtgtcat tgtatcaaga ttttgaaaac ttttatacaa ggaatctgta catgaggata agagacaact ggaatcggcc aatctgtagt gtgcctggag ccagggtgga catcatggag agacagtctc atgattataa ctggtccttc aagtatacag ggaatataat aaagggtgtt ataaacatgg gttcctacaa ctatcttgga tttgcacgga atactggatc atgtcaagaa gcagccgcca aagtccttga ggagtatgga gctggagtgt gcagtactcg gcaggaaatt ggaaacctgg acaagcatga agaactagag gagcttgtag caaggttctt aggagtagaa gctgctatgg cgtatggcat gggatttgca acgaattcaa tgaacattcc tgctcttgtt ggcaaaggtt gcctgattct gagtgatgaa ctgaaccatg catcactggt tctgggagcc agactgtcag gagcaaccat tagaatcttc aaacacaaca atatgcaaag cctagagaag ctattgaaag atgccattgt ttatggtcag cctcggacac gaaggccctg gaagaaaatt ctcatccttg tggaaggaat atatagcatg gagggatcta ttgttcgtct tcctgaagtg attgccctca agaagaaata caaggcatac ttgtatctgg atgaggctca cagcattggc gccctgggcc ccacaggccg gggtgtggtg gagtactttg gcctggatcc cgaggatgtg gatgttatga tgggaacgtt cacaaagagt tttggtgctt ctggaggata tattggaggc aagaaggagc tgatagacta cctgcgaaca cattctcata gtgcagtgta tgccacgtca ttgtcacctc ctgtagtgga gcagatcatc acctccatga agtgcatcat ggggcaggat ggcaccagcc ttggtaaaga gtgtgtacaa cagttagctg aaaacaccag gtatttcagg agacgcctga aagagatggg cttcatcatc tatggaaatg aagactctcc agtagtgcct ttgatgctct acatgcctgc caaaattggc gcctttggac gggagatgct gaagcggaac atcggtgtcg ttgtggttgg atttcctgcc accccaatta ttgagtccag agccaggttt tgcctgtcag cagctcatac caaagaaata cttgatactg ctttaaagga gatagatgaa gttggggacc tattgcagct gaagtattcc cgtcatcggt tggtacctct actggacagg ccctttgacg agacgacgta tgaagaaaca gaagactga. It is sometimes possible for the material contained within the vial of "SPTLC2, cDNA Clone" 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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