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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SPTLC1-20-RE | 20 (40 μL) | 200 μL |  |
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| SPTLC1-20-OR | 20 (40 μL) | 200 μL |  |
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| SPTLC1-20-GO | 20 (40 μL) | 200 μL |  |
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| SPTLC1-20-GR | 20 (40 μL) | 200 μL |  |
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| SPTLC1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SPTLC1
Gene Name : Serine palmitoyltransferase long chain base subunit 1
Chromosome : CHR 9: 921,154,73-920,311,33
Locus : 9q22.31
Alt. Genes : LRPPRC
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