Cloned (Comment) | Organism |
---|---|
expressed in HEK293T cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A352V | subunit 1, naturally occuring mutation, reduced activity in cells expressing mutant protein | Homo sapiens |
C133W | subunit 1, naturally occuring mutation, reduced activity in cells expressing mutant protein | Homo sapiens |
S331F | subunit 1, naturally occuring mutation, reduced activity in cells expressing mutant protein, accumulation of 1-deoxysphingoid bases in HEK293T cells expressing mutant protein | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O15269 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
serine palmitoyltransferase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in the SPTLC1 subunit associated with hereditary sensory and autonomic neuropathy type I | Homo sapiens |