Title : Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway.

Pub. Date : 2019 Sep

PMID : 31227640






1 Functional Relationships(s)
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1 We identified a Hispanic ancestry-specific rare functional variant, L175Q, in delta 4-desaturase, sphingolipid 1 (DEGS1), a key enzyme in the pathway that converts dihydroceramide to ceramide. Sphingolipids delta 4-desaturase, sphingolipid 1 Homo sapiens