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Protein-coding gene in the species Homo sapiens
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
SPTLC2
Medical condition
in the SPTLC1 gene. The gene encodes SPTLC1 protein, which together with SPTLC2 protein, forms serine palmitoyltransferase (SPT) in humans. SPT is a
Hereditary sensory and autonomic neuropathy type I
Hereditary_sensory_and_autonomic_neuropathy_type_I
Class of enzymes
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
Serine_C-palmitoyltransferase
Q9H254 15785 SPTBN5 HGNC:15680; Q9NRC6 15786 SPTLC1 HGNC:11277; O15269 15787 SPTLC2 HGNC:11278; O15270 15788 SPTLC3 HGNC:16253; Q9NUV7 15789 SPTSSA HGNC:20361;
List of human protein-coding genes 8
List_of_human_protein-coding_genes_8
Class of toxic sphingolipids involved in neurological and metabolic disorders
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
1-Deoxysphingolipids
256840; CCT5 Neuropathy, hereditary sensory/autonomic, type IC; 613640; SPTLC2 Neuropathy, recurrent, with pressure palsies; 162500; PMP22 Neutral lipid
List_of_OMIM_disorder_codes
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