long chain base subunit 2, also known as SPTLC2, is a protein which in humans is encoded by the SPTLC2 gene. SPTLC2 belongs to the class-II pyridoxal-phosphate-dependent...
11 KB (1,162 words) - 19:34, 13 January 2024
1) is a genetic disorder caused by mutations in either one of SPTLC1 or SPTLC2, genes encoding the two heterodimeric subunits of the eukaryotic serine...
18 KB (1,755 words) - 20:13, 16 October 2024
in the SPTLC1 gene. The gene encodes SPTLC1 protein, which together with SPTLC2 protein, forms serine palmitoyltransferase (SPT) in humans. SPT is a...
44 KB (5,140 words) - 11:29, 3 December 2023
Q9H254 15767 SPTBN5 HGNC:15680 Q9NRC6 15768 SPTLC1 HGNC:11277 O15269 15769 SPTLC2 HGNC:11278 O15270 15770 SPTLC3 HGNC:16253 Q9NUV7 15771 SPTSSA HGNC:20361...
242 KB (17 words) - 18:43, 6 October 2024
atypical sphingolipids are formed as the result of a mutated SPT (SPTLC1/SPTLC2) with alternative activities. It has also produced by wild-type of SPT under...
19 KB (2,156 words) - 22:53, 14 April 2025
256840; CCT5 Neuropathy, hereditary sensory/autonomic, type IC; 613640; SPTLC2 Neuropathy, recurrent, with pressure palsies; 162500; PMP22 Neutral lipid...
234 KB (18,877 words) - 18:07, 24 March 2025