SPTLC1 (serine palmitoyltransferase, long chain base subunit 1) makes a heterodimer with SPTLC2, which forms the enzyme serine palmitoyltransferase (SPT). SPT resides in the outer membrane of endoplasmic reticulum (ER). SPTLC1 gene maps to human chromosome 9q22.2. This protein has a molecular weight of 53kDa, and is expressed in nucleus, focal adhesions as well as ER. It has multiple putative PDZ binding motifs and a transcription cofactor motif (LXXLL).
Synonyms: Anti-LCB 1 antibody produced in rabbit; Anti-Long chain base biosynthesis protein 1 antibody produced in rabbit; Anti-SPT 1 antibody produced in rabbit; Anti-SPT1 antibody produced in rabbit; Anti-Serine palmitoyltransferase 1 antibody produced in rabbit; Anti-Serine-palmitoyl-CoA transferase 1 antibody produced in rabbit
Storage: -20C
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Biochem Physiol Actions: Serine palmitoyltransferase (SPT) participates in sphingolipid biosynthesis by catalyzing the first step. It catalyzes the condensation of L-serine with palmitoyl-CoA. SPTLC1 (serine palmitoyltransferase, long chain base subunit 1) also resides in focal adhesions, which suggests that it either plays a role in, or is essential for maintaining the normal morphology of cell. As this protein contains the transcription cofactor motif (LXXLL), it might also act as a transcriptional co-regulator that shuttles between the nucleus and cytoplasm. Mutations in SPTLC1 are associated with hereditary sensory neuropathy type 1 (HSN1), which is characterized by length-dependent axonal degeneration. HSN1 cells show abnormalities in mitochondria and ER stress, which are the results of SPTLC1 mutations. Mutation in Ser331residue of this protein, is linked to the early-onset and severe phenotype of HSN1.
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