Symbol
| SPTLC2
| contributors: mct - updated : 22-12-2018
|
HGNC name
| serine palmitoyltransferase, long chain base subunit 2
|
HGNC id
| 11278
|
corresponding disease(s)
|
HSAN6
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
|  
| loss of function
|
deficiency of SPTLC2 induces necrotic lesions in gastrointestinal cells followed by atrophic change of the tissue in short term | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| plasma from Sptlc2 knock-out mice had a significantly stronger potential for promoting cholesterol efflux from macrophages than from wild-type mice because of a greater amount of apoE in the circulation |