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FLASH GENE
Symbol SPTLC2 contributors: mct - updated : 22-12-2018
HGNC name serine palmitoyltransferase, long chain base subunit 2
HGNC id 11278
ASSOCIATED DISORDERS
corresponding disease(s) HSAN6
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
deficiency of SPTLC2 induces necrotic lesions in gastrointestinal cells followed by atrophic change of the tissue in short term
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • 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