Product Information
87141-1-PBS targets SPTLC1 in WB, Indirect ELISA applications and shows reactivity with human samples.
| Tested Reactivity | human |
| Host / Isotype | Rabbit / IgG |
| Class | Recombinant |
| Type | Antibody |
| Immunogen |
CatNo: Ag1162 Product name: Recombinant human SPTLC1 protein Source: e coli.-derived, PGEX-4T Tag: GST Domain: 1-143 aa of BC007085 Sequence: MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFE Predict reactive species |
| Full Name | serine palmitoyltransferase, long chain base subunit 1 |
| Calculated Molecular Weight | 53 kDa |
| Observed Molecular Weight | 53 kDa |
| GenBank Accession Number | BC007085 |
| Gene Symbol | SPTLC1 |
| Gene ID (NCBI) | 10558 |
| Conjugate | Unconjugated |
| Form | Liquid |
| Purification Method | Protein A purification |
| UNIPROT ID | O15269 |
| Storage Buffer | PBS only, pH 7.3. |
| Storage Conditions | Store at -80°C. |
Background Information
SPTLC1 is a subunit of serine palmitoyltransferase (SPT) which is the key enzyme in sphingolipid biosynthesis and is essential for embryogenesis and cell survival. Mutations in the SPTLC1 gene (C133W, C133Y, V144D, and G387A) were reported to be responsible for the development of an inherited sensory neuropathy (hereditary sensory neuropathy type I, HSN1) (PMID: 39959268). Pathogenic variants in SPTLC1 are causative for hereditary sensory and autonomic neuropathy, juvenile amyotrophic lateral sclerosis, macular telangiectasia type 2, or Charcot-Marie-Tooth disease (PMID: 31751474). Western blot analysis detected a specific band at ~53 kDa (PMID: 36197001).
