EC Number   |
Protein Variants |
Reference |
|---|
    2.3.1.50 | A182P |
naturally occuring mutation in subunit LCB1 involved in hereditary sensory and autonomic neuropathy type I disease, and associated with increased synthesis of neurotoxic 1-deoxy-sphingolipids |
736224 |
| 2.3.1.50 | A352V |
subunit 1, naturally occuring mutation, reduced activity in cells expressing mutant protein |
719579 |
| 2.3.1.50 | C133V |
reduced activity |
487174 |
| 2.3.1.50 | C133W |
naturally occuring mutation in subunit LCB1 involved in hereditary sensory and autonomic neuropathy type I disease, the mutant shows reduced activity compared tot he wild-type enzyme |
735744 |
| 2.3.1.50 | C133W |
naturally occuring mutation in subunit LCB1 involved in hereditary sensory and autonomic neuropathy type I disease, the mutant shows showa a significantly increased canonical activity and is associated with increased synthesis of neurotoxic 1-deoxy-sphingolipids |
736224 |
| 2.3.1.50 | C133W |
site-directed mutagenesis, mutation of subunit SPTLC1, construction of transgenic mouse lines that ubiquitously overexpress either wild-type SPTLC1WT or mutant SPTLC1C133W in brain and liver microsomes, SPTLC1C133W mice develop age-dependent weight loss and mild sensory and motor impairments, fed SPTLC1C133W mice lose large myelinated axons in the ventral root of the spinal cord and demonstrate myelin thinning, there is also a loss of large myelinated axons in the dorsal roots, although the unmyelinated fibers are preserved, in the dorsal root ganglia, IB4 staining is diminished, whereas expression of the injury-induced transcription factor ATF3 is increased, phenotype, detailed overview |
673939 |
| 2.3.1.50 | C133W |
subunit 1, naturally occuring mutation, causing sensory neurophaty type 1, forms stable inactive heterodimers with subunit 2, forms heterotrimers with subunit 2 and subunit 3 with 10-20% of wild-type activity, heterotrimers expressed in yeast synthesize also C18-1-deoxyshinganine and expressed in mammalian cells synthesize also C18-1-deoxyshinganine and C20-1-deoxyshinganine, mutant heterotrimeric enzymes are active in yeast and mammalian cells and have an enhanced ability to condense alanine with acyl-CoA |
719871 |
| 2.3.1.50 | C133W |
subunit 1, naturally occuring mutation, reduced activity in cells expressing mutant protein |
719579 |
| 2.3.1.50 | C133Y |
naturally occuring mutation in subunit LCB1 involved in hereditary sensory and autonomic neuropathy type I disease, the mutant shows reduced activity compared tot he wild-type enzyme |
735744 |
| 2.3.1.50 | C133Y |
naturally occuring mutation in subunit LCB1 involved in hereditary sensory and autonomic neuropathy type I disease, the mutant shows showa a significantly increased canonical activity and is associated with increased synthesis of neurotoxic 1-deoxy-sphingolipids |
736224 |
