Serine palmitoyltransferase (SPT). The heterodimer formed with LCB2 (SPTLC2 or SPTLC3) 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-SPTLC3-SSSPTA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SSSPTB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SSSPTB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.
Widely expressed. Not detected in small intestine.
Lipid metabolism; sphingolipid metabolism.
Involvement in disease
Defects in SPTLC1 are the cause of hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400]. The hereditary sensory and autonomic neuropathies are a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN1A is an autosomal dominant axonal neuropathy with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations.
Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Serine palmitoyltransferase long chain base subunit 1 antibody
Serine palmitoyltransferase subunit 1 antibody
Serine-palmitoyl-CoA transferase 1 antibody
SPT 1 antibody
SPTLC 1 antibody
Western blot - Anti-SPTLC1 antibody (ab176706)
All lanes : Anti-SPTLC1 antibody (ab176706) at 0.04 µg/ml
Lane 1 : HeLa whole cell lysate at 50 µg Lane 2 : HeLa whole cell lysate at 15 µg Lane 3 : 293T whole cell lysate at 50 µg Lane 4 : Jurkat whole cell lysate at 50 µg Lane 5 : NIH3T3 whole cell lysate at 50 µg
Pesciotta EN et al. Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients. PLoS One9:e85504 (2014).
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